New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

Conclusions: Our study is the first COL5A1 gene molecular investigation conducted among cEDS patients from Central Eastern Europe. Besides new COL5A1 variant findings, we gained molecular confirmation of clinical diagnosis of cEDS. In some cases, specific and adequate evaluation and classification of EDS patients based only on clinical features, may be difficult. PMID: 30858776 [PubMed]

https://www.ncbi.nlm.nih.gov/pubmed/30858776?dopt=Abstract

Source: Advances in Dermatology and Allergology - March 13, 2019 Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research