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Article

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.

Actas dermo-sifiliograficas - 1 Nov 2011

Cañueto J, Zafra-Cobo M I, Ciria S, Unamuno P, González-Sarmiento R

Abstract excerpt

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild...

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Source

Identifiers

PMID: 21696697
DOI: 10.1016/j.ad.2011.04.004

Genes

EDA

Variants

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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