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Article

The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree.

Dermatology (Basel, Switzerland) - 1 Jan 2013

Yin Wei, Ye Xiaoqian, Bian Zhuan

Abstract excerpt

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by hypodontia, hypohidrosis, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene. OBJECTIVE: In this study we report on a large Chinese XLHED family and investigate the molecular genetics of the defect. METHODS: All individuals of the family were examined by clinical and...

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Source

Identifiers

PMID: 23635427
DOI: 10.1159/000346610

Genes

EDA
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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