Article
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.
Molecular medicine reports - 1 Jul 2017
Deng Hao, Tan Ting, He Quanyong, Lin Qiongfen, Yang Zhijian, Zhu Anding, Guan Liping, Xiao Jingjing, Song Zhi, Guo Yi
Abstract excerpt
Syndactyly is one of the most common hereditary limb malformations, and is characterized by the fusion of specific fingers and/or toes. Syndactyly type I‑c is associated with bilateral cutaneous or bony webbing of the third and fourth fingers and occasionally of the third to fifth fingers, with normal feet. The aim of the present study was to identify the genetic basis of syndactyly type I‑c in four generations...
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