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Article

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Human mutation - 1 Jul 2007

Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A

Abstract excerpt

Anhidrotic ectodermal dysplasia (EDA) is a disorder of ectodermal differentiation characterized by sparse hair, abnormal or missing teeth, and inability to sweat. X-linked EDA is the most common form, caused by mutations in the EDA gene, which encodes ectodysplasin, a member of the tumor necrosis factor (TNF) family. Autosomal dominant and recessive forms of EDA have been also described and are accounted for by...

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Source

Identifiers

PMID: 17354266
DOI: 10.1002/humu.20500

Genes

EDARADD
EDA
EDAR
TNF

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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Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.PMID 17354266Read ↗

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.Semantic proximity Read ↗

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.Semantic proximity Read ↗

Hypohidrotic ectodermal dysplasia: clinical and molecular review.Semantic proximity Read ↗

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.Semantic proximity Read ↗

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.Semantic proximity Read ↗

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A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.Semantic proximity Read ↗

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