Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

Abstract Background Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a prenatal diagnosis for one pregnant f...

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Bibliographic Details
Main Authors: Kang Yu, Yihan Shen, Cai‐Ling Jiang, Wei Huang, Feng Wang, Yi‐Qun Wu
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ectodysplasin A
hypohidrotic ectodermal dysplasia
novel mutation
prenatal diagnosis
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1824

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