A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

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 ai...

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Vydáno v:Medicine (Baltimore)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Health 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7220389/
https://ncbi.nlm.nih.gov/pubmed/32176048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000019244
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