Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E. Deleterious mutations in the zinc finger 469 gene cause fragile corneal syndrome.American Journal of Human Genetics.2008;82(5):1217-1222. https://doi
Agarwal AK, Garg R, Ritch A, Sarkar P. Posturaal orthostatisch tachycardiesyndroom.Postdoctoral medical journal.2007;83(981):478-480. https://doi
Anxiety & Depression Association of America.Chronic pain.2022. [7. March 2022].https://adaaa
Arendt-Nielsen L, Kaalund S, Bjerring P, Høgsaa B. Insufficient effect of local analgesics in Ehlers Danlos type III patients (connective tissue disease).Acta Anesthesiologica Scandinavica.1990;34(5):358-361. https://doi
Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-sectional and longitudinal assessment of aortic root dilation and valve anomalies in hypermobile and classical Ehlers-Danlos syndrome.Journal of Pediatrics.2011;158(5):826–830.e821. https://doi
Aubry-Rozier B, Schwitzguebel A, Valerio F, Tanniger J, Paquier C, Berna C, Hügle T, Benaim C. Are patients with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder so different.Rheumatology International.2021;41(10):1785-1794. https://doi
Baeza-Velasco C, Espinoza P, Bulbena A, Bulbena-Cabré A, Seneque M, Guillaume S. Hypermobilitetspektrum voor styrrelser / Ehlers-Danlos-syndroom en forstyrret-spiseadfærd. I: Manzato E, Cuzzolaro M, Donini LM, editor.Hidden and lesser known disordered eating behaviors among medical and psychiatric conditions.Switzerland: Springer Nature; 2022.https://link
Baeza-Velasco C, Gély-Nargeot MC, Bulbena Vilarrasa A, Bravo JF. Joint hypermobility syndrome: problems requiring psychological intervention.Rheumatology International.2011;31(9):1131-1136. https://doi
Bascom R, Dhingra R, Francomano CA. Respiratory manifestations in Ehlers-Danlos syndromes.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021a;187(4):533-548. https://doi
Bascom R, Dhingra R, Francomano CA, Schubart JR. A case-control study of respiratory medications and co-occurring gastrointestinal prescribing burden in individuals with Ehlers-Danlos syndromes.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021b;187(4):549-560. https://doi
Bathen T, Hångmann AB, Hoff M, Andersen L, Rand-Hendriksen S. Multidisciplinary treatment of disability in Ehlers-Danlos syndrome hypermobility type/hypermobility syndrome: a pilot study with a combination of physical and cognitive behavioral therapy in 12 women.American Journal of Medical Genetics. Del A.2013;161a(12):3005-3011. https://doi
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Mutations in FKBP14 associate a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and dementia.American Journal of Human Genetics.2012;90(2):201-216. https://doi
Beighton P. Ehlers-Danlos-syndroom.Annals of the rheumatic diseases.1970;29(3):332-333. https://doi
Beighton PH, Horan FT. Dominant inheritance of familial generalized joint hypermobility.Journal of Bone and Joint Surgery (British Volume).1970;52(1):145-147. https://doi
Beighton P, Solomon L, Soskolne CL. Joint mobility in an African population.Annals of the rheumatic diseases.1973;32(5):413-418. https://doi
Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillence D, Spranger JW , Thompson E , Tsipouras P , Viljoen D , Winship I , Young I .American Journal of Medical Genetics.1988;29(3):581-594. https://doi
Beighton P , De Paepe A , Steinmann B , Tsipouras P , Wenstrup RJ . Ehlers-Danlos Syndrome: A Revised Nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (VS) and Ehlers-Danlos Support Group (VK).American Journal of Medical Genetics.1998;77(1):31-37. https://doi
Berglund B, Pettersson C, Pigg M, Kristiansson P. Self-reported quality of life, anxiety and depression in people with Ehlers-Danlos syndrome (EDS): a questionnaire study.BMC musculoskeletal disorders.2015;16(1):89. https://doi
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD , McDonnell NB, Atwal PS. Bi-allelic changes in AEBP1 lead to defective collagen assembly and connective tissue structure, resulting in a variant of Ehlers-Danlos syndrome.American Journal of Human Genetics.2018;102(4):696-705. https://doi
Bloom L, Byers P, Francomano C, Tinkle B, Malfait F. The international consortium for Ehlers-Danlos-syndrome.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):5–7. https://doi
Bloom L, Schubart J, Bascom R, Hakim A, Francomano CA. The power of patient-driven global collaboration.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):425-428. https://doi
Bogni M, Bassotti A, Leocata G, Barretta F, Brunani A, Bertazzi PA, Riboldi L, Vigna LM. Workers with Ehlers-Danlos syndrome: indications for health surveillance and appropriate task assignment.Occupational medicine.2015;106(1):23-35. https:
Bonadonna P, Bonifacio M, Zanotti R. Mast cell disorders in drug hypersensitivity.Current pharmaceutical design.2016;22(45):6862-6869. https://doi
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos-syndroom, class type.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):27-39. https://doi
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes, rare types.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):70-115. https://doi
Brock I, Prendergast W, Maitland A. Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.American Journal of Medical Genetics. Del C: Seminarer in Generics.2021;187(4):473-481. https://doi
Bulbena A, Duro JC, Mateo A, Porta M, Vallejo J. Joint hypermobility syndrome and anxiety disorders.From Lancet.1988;332(8612):694. https://doi
Bulbena A, Duró JC, Porta M, Faus S, Vallescar R, Martín-Santos R. Clinics offering hypermobility led by: Samlekriterier.Journal of Rheumatology.1992;19(1):115-122.[PubMed: 1556672]
Bulbena A, Mallorquí-Bague N, Pailhez G, Rosado S, González I, Blanch-Rubió J, Carbonell J. Self-reports for the provision of LED hypermobility syndrome (SQ-CH), a collagen standstill, and that applies to the entire population.European Journal of Psychiatry.2014;28:17–26. https://dx
Bulbena A, Pailhez G, Bulbena-Cabré A, Mallorquí-Bagué N, Baeza-Velasco C. Joint hypermobility, anxiety and psychosomatics: two and a half decades of progress towards a new phenotype.Advances in psychosomatic medicine.2015;34:143-157. https://doi
Bulbena A, Baeza-Velasco C, Bulbena-Cabré A, Pailhez G, Critchley H, Chopra P, Mallorquí-Bague N, Frank C, Porges S. Psychiatrische en psychologische aspecten van het Ehlers-Danlos-syndroom.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):237-245. https://doi
Bulbena-Cabré A, Baeza-Velasco C, Rosado-Figuerola S, Bulbena A. Updates on the psychological and psychiatric aspects of Ehlers-Danlos syndromes and hypermobility spectrum disorders.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):482-490. https://doi
Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.Digestive surgery.2012;29(4):349-357. https://dx
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J , Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Mutations in PRDM5 in fragile cornea syndrome identify a pathway that regulates extracellular matrix development and maintenance.American Journal of Human Genetics.2011;88(6):767-777. https://doi
Byers PH. Vascular Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirza GM, Amemiya A, editors.GeneReviews® [Internet].Seattle, WA: University of Washington; 2019. 1993-2022.https://www
Byers PH, Belmont J, Black J, De Backer J, Frank M, JeunemaitreAmerican Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):40–47. https://doi
Carter C, Wilkinson J. Persistent arthritis and congenital dislocation of the hip.Journal of Bone and Joint Surgery (British Volume).1964;46:40–45. https://doi
Castori M. Ehlers-Danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disease with mucocutaneous, joint and systemic manifestations.ISRN dermatology.2012;2012:751768. https://doi
Castori M. Joint hypermobility syndrome (also known as Ehlers-Danlos syndrome, hypermobility type): an updated critique.Italian Journal of Dermatology and Venereology.2013a;148(1): 13–36.[PubMed: 23407074]
Castori M. Surgical recommendations in Ehlers-Danlos syndrome(s) require classification of the patient: the example of the hypermobility type of Ehlers-Danlos syndrome (also called joint hypermobility syndrome).Digestive surgery.2013b;29(6):453-455. https://doi
Castori M. Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives.Expert advice on orphan drugs.2016;4(11):1145-1158. https://doi
Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in joint hypermobility syndrome (also known as Ehlers-Danlos syndrome, hypermobility type): Principles and proposals for a multidisciplinary approach.American Journal of Medical Genetics. Del A.2012a;158A(8):2055-2070. https://doi
Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Morrone A, Venturini M, Grammatico P, Colombi M. Gynecological and obstetric implications of the joint hypermobility syndrome (also known as the hypermobility type of Ehlers-Danlos syndrome ) in 82 Italian patients.American Journal of Medical Genetics. Del A.2012b;158A(9):2176-2182. https://doi
Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P. Gastrointestinal and nutritional problems in joint hypermobility syndrome / Ehlers-Danlos syndrome, hypermobility type.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2015;169C(1):54-75. https://doi
Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for classifying joint hypermobility and related conditions.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):148-157. https://doi
Chelimsky G, Chelimsky T. The gastrointestinal symptoms present in patients with postural tachycardia syndrome: a review of the literature and an overview of treatment.Autonomic neuroscience.2018;215:70-77. https://doi
Chohan K, Mittal N, McGillis L, Lopez-Hernandez L, Camacho E, Rachinsky M, Mina DS, Reid WD, Ryan CM, Champagne KA, Orchanian-Cheff A, Clarke H, Rozenberg D. A review of respiratory manifestations and their treatment of Ehlers-Danlos syndromes and hypermobility spectrum disorders.Chronic respiratory diseases.2021;18:14799731211025313. https://doi
Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN proteinase gene.American Journal of Human Genetics.1999;65(2):308-317. https://doi
Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study among 105 Italian patients.Rheumatology.2019;58(10):1722-1730. https://doi
Coupal KE, Heeney ND, Hockin BCD, Ronsley R, Armstrong K, Sanatani S, Claydon VE. Pubertal hormonal changes and the autonomic nervous system: potential role in pediatric orthostatic intolerance.Frontiers in neuroscience.2019;13:1197. https://doi
D'Hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of Ehlers-Danlos syndrome: a systematic review.Genetics in medicine.2018;20(6):562-573. https://doi
De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F, Vanderstraeten G, Van Hove G, Van de Velde D. Patient perspectives regarding the "hypermobile Ehlers-Danlos syndrome"Disability and rehabilitation.2021;43(5):668-677. https://doi
De Coster PJ, Van den Berghe LI, Martens LC. Generalized joint hypermobility and temporomandibular disorders: hereditary connective tissue disease as a maximal expression model.Journal of Orofacial Pain.2005;19(1):47-57.[PubMed: 15779539]
De Wandele I, Calders P, Peersman W, Rimbaut S, De Backer T, Malfait F, De Paepe A, Rombaut L. Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia and healthy controls.Seminars on arthritis and rheumatism.2014a;44(3):353-361. https://doi
De Wandele I, Rombaut L, Leybaert L, Van de Borne P, De Backer T, Malfait F, De Paepe A, Calders P. Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome.Seminars on arthritis and rheumatism.2014b;44(1):93-100. https://doi
Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F. Novel defects in collagen XII and VI broaden the spectrum of mixed myopathy/Ehlers-Danlos syndrome and leadership. to variant-specific changes in the extracellular matrix.Genetics in medicine.2020;22(1):112-123. https://doi
Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison.BMJ opened.2019;9(11):e031365. https://doi
Dhingra R, Bascom R, Thompson E, Francomano CA, Schubart JR. Gastrointestinal medication burden in persons with Ehlers-Danlos syndromes.Neurogastroenterology and motility.2021a;33(7): e14077. https://doi
Dhingra R , Hakim A , Bascom R , Francomano CA , Schubart JR .Treatment and research of arthritis.2021b. Prescription requirements for immunomodulatory and anti-inflammatory drugs in individuals with Ehlers-Danlos syndrome.https://doi
Drugs.com.What medications should you avoid for Ehlers-Danlos syndrome? Medically reviewed by Sally Chao, MD.2021. [14. February 2022].https://www
Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. Loss of dermatan-4-sulfotransferase 1 function results in adduction clubfoot syndrome of the big toe.American Journal of Human Genetics.2009;85(6):873-882. https://doi
Eagleton M. Arterial complications of vascular Ehlers-Danlos syndrome.Journal of Vascular Surgery.2016;64(6):1869-1880. https://doi
Ezpeleta L, Navarro JB, Osa N, Penelo E, Bulbena A. Common hypermobility classes in 9-year-old children from the general population and anxiety symptoms.Journal of Developmental en Behavioral Pediatrie.2018;39(6):481-488. https://doi
Feldman ECH, Hivick DP, Slepian PM, Tran ST, Chopra P, Greenley RN. Pain symptomatology and treatment in pediatric Ehlers-Danlos syndrome: a review.Children (Basel).2020;7(9):146. https://doi
Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. Gastrointestinal involvement in Ehlers-Danlos syndrome.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):181-187. https://doi
Gaisl T, Giunta C, Bratton DJ, Sutherland K, Schlatzer C, Sievi N, Franzen D, Cistulli PA, Rohrbach M, Kohler M. Obstructive sleep apnea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.Thorax.2017;72(8):729-735. https://doi
Gilliam E, Hoffman JD, Yeh G. Urogenital and pelvic complications in Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: a scoping review.Clinical genetics.2020;97(1):168-178. https://doi
Giunta C, Elçioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B. Spondylocheiro dysplastic form of Ehlers-Danlos syndrome - An autosomal recessive entity caused by mutations in the zinc transporter gene SLC39A13.American Journal of Human Genetics.2008;82(6):1290-1305. https://doi
Gould GM, Pyle WL.Anomalies and curiosities of medicine.Philadelphia: W.B. Saunders; 1897.https://collections
Guier C, Shi G, Ledford C, Taunton M, Heckman M, Wilke B. Primary total hip arthroplasty in patients with Ehlers-Danlos syndrome: a retrospective matched cohort study.Arthroplasty today.2020;6(3):386-389. https://dx
Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain.International Journal of Clinical Practice.2003;57(3):163-166.[PubMed: 12723715]
Hakim A, Grahame R, Norris P, Hopper C. Local anesthetic failure in joint hypermobility syndrome.Journal of the Royal Society of Medicine.2005;98(2):84-85. https://www
Hakim A, De Wandele I, O'Callaghan C, Pocinki A, Rowe P. Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017a;175(1):175-180. https://doi
Hakim A, O'Callaghan C, De Wandele I, Stiles L, Pocinki A, Rowe P. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017b;175(1):168-174. https://doi
Hakim AJ, Tinkle BT, Francomano CA. Ehlers-Danlos syndromes, hypermobility spectrum disorders and associated comorbidities: reports from the EDS ECHO.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):413-415. https://doi
Halverson CME, Clayton EW, Garcia Sierra A, Francomano C. Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: rethinking complexity and severity as a hero's journey.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):416-424. https://doi
Harvard Health Publishers.Depression and pain.2017. [7. March 2022].https://www
Hautala T, Heikkinen J, Kivirikko KI, Myllylä R. A large duplication in the gene for lysyl hydroxylase is responsible for the type VI variant of Ehlers-Danlos syndrome in two siblings.Genomics.1993;15(2):399-404. https://doi
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. Neurological and spinal manifestations of Ehlers-Danlos syndromes.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):195-211. https://doi
Henderson FC, Francomano CA, Koby M, Tuchman K, Adco*ck J, Patel S. Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5 years follow-up after craniocervical reduction, fusion and stabilization.Neurosurgical assessment.2019;42(4):915-936. https://doi
Hernandez AMC, Dietrich JE. Gynecological treatment of pediatric and adolescent patients with Ehlers-Danlos syndrome.Journal of Pediatric and Adolescent Gynecology.2020;33(3):291-295. https://doi
Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. Defining mutations in the collagen XII gene a new form of extracellular matrix-related myopathy.Human molecular genetics.2014;23(9):2353-2363. https://doi
Hsieh FH. Gastrointestinal involvement in mast cell activation disorders.Immunology and Allergy Clinics in North America.2018;38(3):429-441. https://doi
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A. Gynecological symptoms and the influence on reproductive life in 386 women with hypermobility type Ehlers-Danlos syndrome: a cohort study.Orphanet Journal of Rare Diseases.2016;11(1):124. https://doi
Inayet N, Hayat JO, Kaul A, Tome M, Child A, Poullis A. Gastrointestinal symptoms in Marfan syndrome and hypermobile Ehlers-Danlos syndrome.Gastroenterological research and practice.2018;2018:4854701. https://doi
International Consortium (International Consortium for Ehlers-Danlos Syndromes and Related Conditions).Diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS).2017. [14. February 2022].https://www
Jackson SC, Odiaman L, Card RT, van der Bom JG, Poon MC. Suspected collagen disorders in the bleeding disorders clinic: a case-control study.Hemophilia.2013;19(2):246-250. https://doi
Jansen LH. Mode of transmission in Ehlers-Danlos disease.Journal of Human Genetics.1955;4(4):204-218.[PubMed: 13306907]
Jayarajan SN, Downing BD, Sanchez LA, Jim J. Trends in vascular surgery in Marfan syndrome and Ehlers-Danlos syndrome.Vascular.2020;28(6):834-841. https://doi
Johnson SAM, Falls HF. Ehlers-Danlos syndrome: a clinical and genetic study.Archive for dermatology and syphilology.1949;60(1):82-105. https://doi
Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RHH. Measurement properties of clinical assessment methods for the classification of generalized joint hypermobility - A systematic review.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):116-147. https://doi
Kalisch L, Hamonet C, Bourdon C, Montalescot L, de Cazotte C, Baeza-Velasco C. Predictors of pain and mobility problems in hypermobile Ehlers-Danlos syndrome.Disability and rehabilitation.2020;42(25):3679-3686. https://doi
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J. Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, as code for subcomponent C1r and C1s as complement.American Journal of Human Genetics.2016;99(5):1005-1014. https://doi
Karthikeyan A, Venkat-Raman N. Hypermobile Ehlers-Danlos syndrome and pregnancy.Obstetric medicine.2018;11(3):104-109. https://doi
Kilaru SM, Mukamal KJ, Nee JW, Oza SS, Lembo AJ, Wolf JL. Safety of endoscopy in hereditary connective tissue diseases.American Journal of Gastroenterology.2019;114(8):1343-1345.to: 10.14309/ajg.00000000000000189. [PubMed: 31185005]
Kindgren E, Quiñones Perez A, Knez R. Prevalence of ADHD and autism spectrum disorder in children with hypermobility spectrum disorders or hypermobile Ehlers-Danlos syndrome: a retrospective study.Neuropsychiatric disease and treatment.2021;17:379-388. https://doi
Klinge PM, McElroy A, Donahue JE, Brinker T, Gokaslan ZL, Beland MD. Abnormal spinal cord motion at the craniocervical junction in hypermobile Ehlers-Danlos patients.Journal of Neurokirurgi.2021;35(1): 18–24. https://doi
Klinge PM, Srivastava V, McElroy A, Leary OP, Ahmed Z, Donahue JE, Brinker T, De Vloo P, Gokaslan ZL. Diseased filum terminale as a cause of tethered cord syndrome in Ehlers-Danlos syndrome: histopathology, biomechanics, clinical presentation and outcome of filum excision.Neurosurgery of the world.2022;162(June): e492–e502. https://doi
Ridder I. The role of narrative medicine in the treatment of joint hypermobility syndrome/Ehlers-Danlos syndrome, type hypermobility.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2015;169C(1):123-129. https://doi
Komi DEA, Khomtchouk K, Santa Maria PL. A review of the contribution of mast cells to wound healing: molecular and cellular mechanisms involved.Clinical Reviews in Allergy and Immunology.2020;58(3):298-312. https://doi
Kosashvili Y, Fridman T, Backstein D, Safir O, Bar Ziv Y. The correlation between pes planus and anterior knee or intermittent low back pain.Voet & Ankel International.2008;29(9):910-913. https://doi
Krahe AM, Adams RD, Nicholson LL. Characteristics Worsening severity of fatigue in the hypermobility type joint hypermobility syndrome/Ehlers-Danlos syndrome.Disability and rehabilitation.2018;40(17):1989-1996. https://doi
Kulas Søborg M-L, Leganger J, Rosenberg J, Burcharth J. Increased need for gastrointestinal surgery and increased risk of surgery-related complications in patients with Ehlers-Danlos syndrome: a systematic review.Digestive surgery.2017;34(2):161-170. https://dx
Langhinrichsen-Rohling J, Lewis CL, McCabe S, Lathan EC, Agnew GA, Selwyn CN, Gigler ME. They have become BIT: reports of institutional and provider betrayals and associations with the current symptoms, unmet needs, and health expectations of patients with Ehlers-Danlos syndrome.Therapeutic advances in rare diseases.2021;2:1-12. https://doi
Latest JM edition.Dictionary of Epidemiology.Fourth edition. New York: Oxford University Press; 2001.
Lam CY, Palsson OS, Whitehead WE, Sperber AD, Tornblom H, Simren M, Aziz I. Rom IV functional gastrointestinal disorders and health problems in individuals with hypermobility spectrum disorders or hypermobile Ehlers-Danlos syndrome.Clinical gastroenterology and hepatology.2021;19(2):277-287.e273. https://doi
Louie A, Meyerle C, Francomano C, Srikumaran D, Merali F, Doyle JJ, Bower K, Bloom L, Boland MV, Mahoney N, Daoud Y, Singman EL. Mapping the ophthalmological surgical experiences of Ehlers-Danlos patients.Molecular genetics and genomic medicine.2020;8(4) https://dx
Lum YW, Brooke BS, Black JH 3rd. Modern treatment of vascular Ehlers-Danlos syndrome.Current opinion in cardiology.2011;26(6):494-501. https://doi
Maitland A. Mast cell activation syndrome. In: Jovin D, editor.Disjointed: Navigating the diagnosis and treatment of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.1. udg. San Francisco: Hidden Stripes Publications; 2020.s. 217–231.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza- Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The international 2017 classification of Ehlers-Danlos syndromes.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):8–26. https://doi
Mathias CJ, Low DA, Iodice V, Owens AP, Kirbis M, Grahame R. Postural tachycardia syndrome - Current experiences and concepts.Nature Reviews: Neurology.2011;8(1):22–34. https://doi
Mathias CJ, Owens A, Iodice V, Hakim A. Dysautonomia in the Ehlers-Danlos syndromes and hypermobility spectrum disorders - With focus on postural tachycardia syndrome.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):510-519. https://doi
Maxwell AJ. Dysautonomia. In: Jovin D, editor.Disjointed: Navigating the diagnosis and treatment of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.1. udg. San Francisco: Hidden Stripes Publications; 2020.s. 135–215.
McKusick VA.Hereditary connective tissue disorders.1st edition St. Louis: C.V. Mosby Firm; 1956.
McKusick VA.Hereditary connective tissue disorders.4th edition St. Louis: C.V. Mosby Firm; 1972.
McNerney JE, Johnston WB. Generalized ligamentous laxity, hallux abducto valgus and the first metatarsocuneiform joint.Journal of the American Podiatry Association.1979;69(1):69-82. https://doi
Meester J, Verstraeten A, Schepers D, Alaerts M, Van Laer L, Loeys BL. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome and Loeys-Dietz syndrome.Annals of cardiothoracic surgery.2017;6(6):582-594. https://doi
Mehr SE, Barbul A, Shibao CA. Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.Clinical autonomous research.2018;28(4):411-421. https://doi
Meyer KJ, Chan C, Hopper L, Nicholson LL. Identification of specific and generalized joint hypermobility of the lower extremities in adults: validation of the lower extremity assessment score.BMC musculoskeletal disorders.2017;18(1):514. https://doi
Miklović T, Sieg V.StatPearls [Internet].Treasure Island, FL: StatPearls Publishing; 2022. Ehlers Danlos-syndroom.https://www
Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA. Syndrome of occipito-atlantoaxial hypermobility, cranial deposition and Chiari malformation type I in patients with hereditary connective tissue disorders.Journal of Neurokirurgi: Spine.2007;7(6):601-609. https://doi
Mittal M, Mina DS, McGillis L, Weinrib A, Slepian PM, Rachinsky M, Buryk-Iggers S, Laflamme C, Lopez-Hernandez L, Hussey L, Katz J, McLean L, Rozenberg D, Liu L, Tse Y, Parker C, Adler A, Charames G, Bleakney R, Veillete C, Nielson CJ, Tavares S, Varriano S, Guzman J, fa*ghfoury H, Clarke H. The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-systemic problems in connective tissue diseases at Toronto General Hospital.Orphanet Journal of Rare Diseases.2021;16(1):357. https://doi
Moonesinghe SR, Mythen MG, Das P, Rowan KM, Grocott MP. Risk stratification tools to predict morbidity and mortality in adult patients undergoing major surgery: qualitative systematic review.Anesthesiology.2013;119(4):959-981. https://doi
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders .American Journal of Medical Genetics. Del A.2019;179(4):561-569. https://doi
Müller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.Human molecular genetics.2013;22(18):3761-3772. https://doi
Mulvey MR, Macfarlane GJ, Beasley M, Symmons DPM, Lovell K, Keeley P, Woby S, McBeth J. Modest association of joint hypermobility with disabling and disabling musculoskeletal pain: results from a large general population study.Treatment and research of arthritis.2013;65(8):1325-1333. https://doi
Murray B, Yashar BM, Uhlmann WR, Clauw DJ, Petty EM. Ehlers-Danlos syndrome, hypermobility type: a characterization of patients' lived experience.American Journal of Medical Genetics. Del A.2013;161A(12):2981-2988. https://doi
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Mutations in B3GALT6 , which codes for an enzyme in the glycosaminoglycan-linker region, causes a spectrum of skeletal and connective tissue disorders.American Journal of Human Genetics.2013;92(6):927-934. https://doi
National Institute of Allergy and Infectious Diseases.Frequently asked questions about hereditary alpha-tryptasemia and hereditary alpha-tryptasemia syndrome.2018. [4. March 2022].https://www
Nee J, Kilaru S, Kelley J, Oza SS, Hirsch W, Ballou S, Lembo A, Wolf J. Prevalence of functional GI disorders and pelvic floor symptoms in Marfan syndrome and Ehlers-Danlos syndrome: a national cohort study.Journal of Clinical Gastroenterology.2019;53(9):653-659. https://doi
Nicholls AC, Oliver J, Renouf DV, McPheat J, Palan A, Paus FM. Ehlers-Danlos syndrome type VII: A single base change causes exon skipping in the type I collagen alpha 2(I) chain.Human genetics.1991;87(2):193-198. https://doi
Nicholson LL, Chan C. The upper extremity hypermobility assessment tool: a new validated measure of joint mobility in adults.Musculoskeletal science and practice.2018;35:38-45. https://doi
NLM (Amerikaanse National Library of Medicine).ClinicalTrails.gov.2022. [11. February 2022].https:
NORD (National Organization for Rare Disorders).Rare Disease Database: Ehlers-Danlos Syndrome.2017. [16. mei 2022].https:
Okajima T, f*ckumoto S, Furukawa K, Urano T. Molecular basis of the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in the galactosyltransferase I gene.Journal of Biological Chemistry.1999;274(41):28841-28844. https://doi
Orphan nets.Dermatosparaxis Ehlers-Danlos syndrome.2022a. [16. February 2022].https://www
Orphan nets.Musculocontractural Ehlers-Danlos syndrome.2022b. [16. February 2022].https://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=DA&data_id=3480&Disease_Disease_Search_diseaseGroup=Musculocontractural-EDS&Disease_Disease_Search_diseaseType%2dise=Musculocontractural-EDS&Disease_Disease_Search_diseaseDgroupase%2dis e= Musculo/disease%2dise=Tractoral muscle tissue -Ehlers-Danlos -syndrom&title=Musculocontractural%20Ehlers-Danlos%20 syndrome&search=Disease_Search_Simple.
Pacey V, Tofts L, Adams RD, Munns CF, Nicholson LL. Predicting quality of life in children with joint hypermobility syndrome.Journal of Pediatrics and Child Health.2015;51(7):689-695. https://doi
Palomo-Toucedo IC, Leon-Larios F, Reina-Bueno M, Vazquez-Bautista MDC, Munuera-Martinez PV, Dominguez-Maldonado G. Psychosocial influence of Ehlers-Danlos syndrome in patients' daily lives: a qualitative study.International Journal of Environmental Research and Public Health.2020;17(17):6425. https://doi
Parapia LA, Jackson C. Ehlers-Danlos syndrome - A historical review.British Journal of Hematologie.2008;141(1):32–35. https://doi
Patel M, Khullar V. Urogynecology and Ehlers-Danlos syndrome.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):579-585. https://doi
Peggs KJ, Nguyen H, Enayat D, Keller NR, Al-Hendy A, Raj SR. Gynecological disorders and dizziness in the menstrual cycle in postural tachycardia syndrome.International journal of gynecology and obstetrics.2012;118(3):242-246. https://doi
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.New England Journal of Medicine.2000;342(10):673-680. https://doi
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is influenced by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).Genetics in medicine.2014;16(12):881-888. https://doi
Pezaro S, Pearce G, Reinhold E. Hypermobile Ehlers-Danlos syndrome during pregnancy, childbirth and beyond.British Journal of Midwifery.2018;26(4):217-223. https://doi
Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ. A hereditary connective tissue disorder. Hydroxylysin-deficient collagen disease.New England Journal of Medicine.1972;286(19):1013-1020. https://doi
Puledda F, Viganò A, Celletti C, Petolicchio B, Toscano M, Vicenzini E, Castori M, Laudani G, Valente D, Camerota F, Di Piero V. A study of migraine characteristics in joint hypermobility syndrome, also known as joint hypermobility syndrome. Ehlers-Danlos syndrome, hypermobility type.Neurological Sciences.2015;36(8):1417-1424. https://doi
Pyeritz RE. Ehlers-Danlos syndromes. Goldman L, Bennett JC, editors. Philadelphia: W.B. Saunders;Cecil textbook in medicine.(21.) 2000;1:1119-1120.
Quatman CE, Ford KR, Myer GD, Paterno MV, Hewett TE. The effects of gender and pubertal status on generalized joint laxity in young athletes.Journal for Science and Medicine in Sports.2008;11(3):257-263. https://doi
Ramirez-Paesano C, Juanola Galceran A, Rodiera Clarens C, Gilete Garcia V, Oliver Abadal B, Vilchez Cobo V, Ros Nebot B, Julian Gonzalez S, Cao Lopez L, Santaliestra Fierro J, Rodiera Olive J. Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing cranio-cervical fixation: a case series study focusing on an antihyperalgesic approach.Orphanet Journal of Rare Diseases.2021;16(1):172. https://doi
Roma M, Marden CL, De Wandele I, Francomano CA, Rowe PC. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.Autonomic neuroscience.2018;215:89-96. https://doi
Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A, Calders P. Medicine, surgery and physiotherapy in patients with hypermobility type Ehlers-Danlos syndrome.Archive for Physical Medicine and Rehabilitation.2011;92(7):1106-1112. https://doi
Ronchese F. Dermatorrhexis: With dermatochalasis and arthrochalasis (the so-called Ehlers-Danlos syndrome).American Journal of Childhood Diseases.1936;51(6):1403-1414. https://doi
Rotés Querol J.Clinical rheumatology.Barcelona: Espaxs; 1983.
Rowe PPaper commissioned by the Committee on Hereditary Disorders of Connective Tissue and Disability.National Academies of Sciences, Engineering and Medicine; Washington, DC: 2022. The functional impact of orthostatic intolerance in Ehlers-Danlos syndrome.
Rowe PC, Barron DF, Calkins H, Maumenee IH, Tong PY, Geraghty MT. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.Journal of Pediatrics.1999;135(4):494-499. https://doi
Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. En recessive form for Ehlers-Danlos syndrom forårsaget af tenascin-X-mangel.New England Journal of Medicine.2001;345(16):1167-1175. https://doi
Schubart JR, Schaefer E, Hakim AJ, Francomano CA, Bascom R. Use of cluster analysis to delineate symptom profiles in a patient population with Ehlers-Danlos syndrome.Journal of Pain and Symptom Management.2019a;58(3):427-436. https://doi
Schubart JR, Schaefer E, Janicki P, Adhikary SD, Schilling A, Hakim AJ, Bascom R, Francomano CA, Raj SR. Resistance to local anesthetics in individuals with Ehlers-Danlos syndrome presenting for dental surgery.Journal of Dental Anesthesia and Pain Medicine.2019b;19(5):261. https://dx
Schubart JR, Mills SE, Schaefer EW, Bascom R, Francomano CA. Longitudinal analysis of symptoms in Ehlers-Danlos syndromes.American Journal of Medical Genetics. Del A.2022;188(4):1204-1213. https://doi
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. The rare autosomal recessive valve form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.American Journal of Human Genetics.2004;74(5):917-930. https://doi
Seneviratne SL, Maitland A, Afrin L. Mast cell disorders and Ehlers-Danlos syndrome.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):226-236. https://doi
Sestak Z. Ehlers-Danlos syndrome and cutis laxa: a report from families in the Oxford area.Annals of Human Genetics.1962;25(4):313-321. https://doi
Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C , Behrendt CA, Debus ES, von Kodolitsch Y, Powell RJ, Pepin M, Milewicz DM, Lawrence PF, Woo K. A multi-institutional experience in aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.Journal of Vascular Surgery.2019;70(5):1543-1554. https://doi
Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J. Ehlers-Danlos syndrome: an analysis of current treatment options.Pain doctor.2020;23(4):429-438.[PubMed: 32709178]
Sordet C, Cantagrel A, Schaeverbeke T, Sibilia J. Bone and joint diseases associated with primary immunodeficiencies.Joints, Bones, Spine: Arthritis Assessment.2005;72(6):503-514. https://doi
Steinmann B, Royce PM, Superti-Furga A. Ehlers-Danlos-syndroom. In: Steinmann B, Royce PM, redactie.Connective tissue and its hereditary disorders: molecular, genetic and medical aspects.2. rand. New York: Wiley-Liss, Inc.; 2002.https://doi
Tahir F, Bin Arif T, Majid Z, Ahmed J, Khalid M. Ivabradine in postural orthostatic tachycardia syndrome: a review of the literature.Cureus.2020;12(4): e7868. https://doi
Tai FWD, Palsson OS, Lam CY, Whitehead WE, Sperber AD, Tornblom H, Simren M, Aziz I. Functional gastrointestinal disturbances are increased in joint hypermobility-related conditions with concurrent postural orthostatic tachycardia syndrome.Neurogastroenterology and motility.2020;32(12):e13975. https://doi
Terry RH, Palmer ST, Rimes KA, Clark CJ, Simmonds JV, Horwood JP. Living with joint hypermobility syndrome: patient experiences with diagnosis, referral and self-care.Family exercise.2015;32(3):354-358. https://doi
Tinkel BT. Symptomatic joint hypermobility.Best practices and research: clinical rheumatology.2020;34(3): 101508. https://doi
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers-Danlos syndrome (also known as Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): clinical description and natural history.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2017;175(1):48-69. https://doi
Tobias N.Archive for dermatology and syphilology.4th part. 30. 1934. Danlos syndrome associated with congenital lipomatosis; pp. 540-551.https://doi/0
Tran ST, Jagpal A, Koven ML, Turek CE, Golden JS, Tinkle BT. Symptoms and influence on functioning in young people with hypermobile Ehlers-Danlos syndrome.Journal of Child Health Care.2020;24(3):444-457. https://doi
Tschernogobow A. Cutis laxa (presentation at first meeting in Moscow). Dermatological and Venereological Society, November 13, 1891.Monthly Journals of Practical Dermatology.1892;14:76.
Vernino S, Bourne KM, Stiles LE, Grubb BP, Fedorowski A, Stewart JM, Arnold AC, Pace LA, Axelsson J, Boris JR, Moak JP, Goodman BP, Chémali KR, Chung TH, Goldstein DS, Diedrich A, Miglis MG , Cortez MM, Miller AJ, Freeman R, Biaggioni I, Rowe PC, Sheldon RS, Shibao CA, Systrom DM, Cook GA, Doherty TA, Abdallah HI, Darbari A, Raj SR. Postural Orthostatic Tachycardia Syndrome (POTS): State of the Science and Clinical Care Based on 2019 National Institutes of Health Consensus Meeting – Part 1.Autonomic neuroscience.2021;235:102828. https://doi
Voermans NC, Knoop H, Bleijenberg G, van Engelen BG. Pain in Ehlers-Danlos syndrome is common, severe, and associated with functional limitations.Journal of Pain and Symptom Management.2010a;40(3):370-378. https://doi
Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos syndrome.Seminars on arthritis and rheumatism.2010b;40(3):267-274. https://doi
Warnink-Kavelaars J, de Koning LE, Rombaut L, Menke LA, Alsem MW, van Oers HA, Buizer AI, Engelbert RHH, Oosterlaan J., Pediatric Hereditary Connective Tissue Disorder Study Group. Hereditary connective tissue disorders in children: reduced health-related quality of life and mental health.American Journal of Medical Genetics. Del A.2022;188(7):2096-2109. https://doi
Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D, Bateman JF. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.EMBO magazine.1989;8(6):1705-1710. https://doi
Wilder-Smith CH, Drewes AM, Materna A, Olesen SS. Symptoms of mast cell activation syndrome in functional gastrointestinal disorders.Scandinavian Journal of Gastroenterology.2019;54(11):1322-1325. https://doi
Wile H. The elastic skin man.Medical News (NY).1883;43:705.
Yonko EA, Loturco HM, Carter EM, Raggio CL. Orthopedic considerations and surgical outcomes in Ehlers-Danlos syndromes.American Journal of Medical Genetics Del C: Seminarer in medische genetica.2021;187(4):458-465. https://dx
Zierau O, Zenclussen AC, Jensen F. Role of female sex hormones, estradiol and progesterone, in mast cell behavior.Frontiers in immunology.2012;3:169. https://doi