Article
A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.
Medicine - 1 Mar 2020
Wang Xu, Zhang Zhiyu, Yuan Shuo, Ren Jiabao, Qu Hong, Zhang Guozhong, Chen Wenjing, Zheng Shushen, Meng Lingqiang, Bai Jiuping, Du Qingqing, Yang Dongru, Shen Wenjing
Abstract excerpt
A mutation in the epithelial morphogen gene ectodysplasin-A1 (EDA1) is responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia. XLHED is characterized by impaired development of hair, eccrine sweat glands, and teeth. This study aimed to identify potentially pathogenic mutations in four Chinese XLHED families.Genomic DNA was extracted from the...
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