Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

BackgroundThis study aimed to investigate the genetic causes of hypohidrotic ectodermal dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in Chinese Han patients.MethodsWhole-exome sequencing (WES) was used to screen HED-related genes in two family members, followed by...

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Bibliographic Details
Main Authors: Yang Han, Xiuli Wang, Liyun Zheng, Tingting Zhu, Yuwei Li, Jiaqi Hong, Congcong Xu, Peiguang Wang, Min Gao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
hypohidrotic ectodermal dysplasia
whole-exome sequencing
Sanger sequencing
ectodysplasin A gene
gene mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00021/full

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