Article
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
American journal of human genetics - 1 Apr 2000
Nuytinck L, Freund M, Lagae L, Pierard G E, Hermanns-Le T, De Paepe A
Abstract excerpt
Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, have been shown to underlie this type of EDS. However, to date, mutations have been found in only a limited number of patients, which suggests genetic heterogeneity. In this article,...
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