Article
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
Congenital anomalies - 1 Jan 2017
Wang Bo, Li Niu, Geng Juan, Wang Zhigang, Fu Qihua, Wang Jian, Xu Yunlan
Abstract excerpt
Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical...
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