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Article

X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.

American journal of medical genetics. Part A - 15 Sept 2003

Visinoni Atila F, de Souza Ricardo L R, Freire-Maia Newton, Gollop Thomaz R, Chautard-Freire-Maia Eleidi A

Abstract excerpt

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (ED1) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin-A; EDA-A) involved in the developmental process of epithelial-mesenchymal interaction. ED1 mutations that cause alterations in this protein lead to the...

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Source

Identifiers

PMID: 12949972
DOI: 10.1002/ajmg.a.20276

Genes

EDA
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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