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Article

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

American journal of medical genetics. Part A - 1 Aug 2014

Henningsen Emil, Svendsen Mathias Tiedemann, Lildballe Dorte Launholt, Jensen Peter Kjestrup Axel

Abstract excerpt

We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous...

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Source

Identifiers

PMID: 24764207
DOI: 10.1002/ajmg.a.36582

Genes

EDAR

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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A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.PMID 24764207Read ↗

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A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.Semantic proximity Read ↗

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Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.Semantic proximity Read ↗

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