Associated Papers
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.
Gong Z et al.
Clinical and Experimental Dermatology, 2021
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2020
32736638 (PubMed )
Supplement: 13023_2020_1470_MOESM1_ESM.xls › 2017_Criteria
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
Mitchell AL et al.
Human Mutation, 2009
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