Article
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
Bone - 1 Nov 2013
Zhou Xiang, Zheng Canbin, He Bo, Zhu Zhaowei, Li Ping, He Xinhua, Zhu Shuang, Yang Chuan, Lao Zhenguo, Zhu Qingtang, Liu Xiaolin
Abstract excerpt
INTRODUCTION: Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is caused by mutations in homeobox d13 (HOXD13). Here, we describe the study of a two-generation Chinese family with a variant form of synpolydactyly. MATERIALS AND METHODS: The sequence of the HOXD13 gene was analyzed. Luciferase assays were conducted to determine whether the mutation affected the function of the HOXD13 protein. RESULTS:...
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