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Article

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.

Genetics and molecular research : GMR - 2 Dec 2015

Xue J J, Tan B, Gao Q P, Zhu G S, Liang D S, Wu L Q

Abstract excerpt

This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the family was sequenced. The detected mutation in EDA was investigated in 120 normal...

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Source

Identifiers

PMID: 26634545
DOI: 10.4238/2015.December.1.29

Genes

EDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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