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Article

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

The Journal of investigative dermatology - 1 Oct 2004

Shimomura Yutaka, Sato Nobuyuki, Miyashita Akinori, Hashimoto Tsuyoshi, Ito Masaaki, Kuwano Ryozo

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene. In this study,...

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Source

Identifiers

PMID: 15373768
DOI: 10.1111/j.0022-202X.2004.23405.x

Genes

EDAR
EDARADD
EDA

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.

Related research

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A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.PMID 15373768Read ↗

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 ↗

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

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

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.Semantic proximity Read ↗

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.Semantic proximity Read ↗

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

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

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