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Article

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

European journal of human genetics : EJHG - 1 Jun 2008

van der Hout Annemarie H, Oudesluijs Grétel G, Venema Andrea, Verheij Joke B G M, Mol Bart G J, Rump Patrick, Brunner Han G, Vos Yvonne J, van Essen Anthonie J

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. X-linked and autosomal forms are sometimes clinically indistinguishable. For genetic counseling in families, it is therefore important to know the gene involved. In 24 of 42 unrelated patients with features...

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Source

Identifiers

PMID: 18231121
DOI: 10.1038/sj.ejhg.5202012

Genes

EDAR
EDARADD

Variants

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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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.PMID 18231121Read ↗

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