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Article

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clinical genetics - 1 Sept 2010

Clauss F, Chassaing N, Smahi A, Vincent M C, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière M C, Schmittbuhl M

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated...

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Source

Identifiers

PMID: 20236127
DOI: 10.1111/j.1399-0004.2010.01376.x

Genes

EDA
EDAR
TNF

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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X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.PMID 20236127Read ↗

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

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

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

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