A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability

Abstract Background Hypohidrotic ectodermal dysplasia (HED) mainly results from gene mutations in the EDA/EDAR/NF‐κB pathway. Function analysis of the mutations in the collagen domain of ectodysplasin A (EDA)result in HED has been rarely studied. This study aimed at determining the mechanism by whic...

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Bibliographic Details
Main Authors: Xingyu Liu, Yuming Zhao, Junxia Zhu
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
collagen domain
EDA
hypohidrotic ectodermal dysplasia
NF‐κB
Online Access:https://doi.org/10.1002/mgg3.2119

Internet

https://doi.org/10.1002/mgg3.2119

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