Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics

Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral features.Methods: Molecular genetic defects in three HED...

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Bibliographic Details
Main Authors:	Yupei Wang, Chuan Zhang, Bingbo Zhou, Ling Hui, Lei Zheng, Xue Chen, Shifan Wang, Lan Yang, Shengju Hao, Qinghua Zhang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-07-01
Series:	Frontiers in Genetics
Subjects:	hypohidrotic ectodermal dysplasia EDA whole-exome sequencing splicing variant cryptic splice site HED
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.916340/full

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