Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.

Abstract

Dear Editor, Ehlers–Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. The classic type of EDS (cEDS) is the most common variant with general features of skin hyperextensibility, widened atrophic scarring and joint hypermobility. It is rare, with a prevalence of approximately 1/20 000. In addition, it is autosomal dominant and is… (More)
DOI: 10.1111/1346-8138.13964

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