Article
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
American journal of medical genetics. Part A - 1 Sept 2006
Wang Xu, Xiao Fuying, Yang Qinbo, Liang Bo, Tang Zhaohui, Jiang Linbin, Zhu Qihui, Chang Wei, Jiang Jiuxi, Jiang Chuanming, Ren Xiang, Liu Jing-Yu, Wang Qing K, Liu Mugen
Abstract excerpt
Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints and fusion of carpal and tarsal bones. We identified and characterized two five-generation Chinese families with SYM1. The two families share some similarities (e.g., osseous fusion of interphalangeal joints of the 2-4 fingers) with SYM1 families with mutations in the NOG gene or the...
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