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Article

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.

BMC medical genetics - 16 May 2014

Kieri Catarina Falk, Bergendal Birgitta, Lind Lisbet K, Schmitt-Egenolf Marcus, Stecksén-Blicks Christina

Abstract excerpt

BACKGROUND: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect...

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Source

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Identifiers

PMID: 24884697
DOI: 10.1186/1471-2350-15-57
PMCID: PMC4036832

Genes

EDAR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24884697-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.PMID 24884697Read ↗

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

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

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesisSemantic proximity Read ↗

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

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

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Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.Semantic proximity Read ↗

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