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Article

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

Molecular genetics & genomic medicine - 1 Apr 2023

Liu Xingyu, Zhao Yuming, Zhu Junxia

Abstract excerpt

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 which the novel collagen domain mutation of EDA results in HED. METHODS: We analyzed the DNAs from a Chinese family with HED and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36448232
DOI: 10.1002/mgg3.2119
PMCID: PMC10094068

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