Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

doi:10.1086/513905

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Article

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

American journal of human genetics - 1 Jul 1997

Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard P M, Jorgenson R, Zonana J

Abstract excerpt

A crucial issue in genetic counseling is the recognition of nonallelic genetic heterogeneity. Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands, is usually inherited as an X-linked recessive tra...

Topics

Adolescent
Adult
Animals
Child, Preschool
Diagnosis, Differential
Ectodermal Dysplasia
Ectodysplasins
Female
Genes, Recessive
Genetic Linkage
Genetic Markers
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Membrane Proteins

Mice

Mutation

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 9245989
DOI: 10.1086/513905
PMCID: PMC1715866

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9245989-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.PMID 9245989Read ↗

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

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Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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