D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome

作者：Li Zhang, Zhanxiang Wang, Yali Song, Ying Qiu, Nan Chen, Zhenying Wang · 发表于：Indian Journal of Dermatology Venereology and Leprology · 年份：2012 · DOI：10.4103/0378-6323.100595 · 被引用次数：7 · 研究领域：Connexins and lens biology、Connective tissue disorders research

Sir, Vohwinkel syndrome (VS; OMIM 124500), also known as mutilating palmoplantar keratoderma, is a rare autosomal dominant skin disease first described by Vohwinkel in 1929. VS is characterized by diffuse hyperkeratosis of palms and soles, a honeycomb appearance, starfish-like keratoses, and constriction bands leading to auto-amputation of the digits (pseudoainhum). Two candidate genes, LOR and GJB2, were identified by