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Article

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Journal of medical genetics - 1 Jul 1990

Goodship J, Malcolm S, Clarke A, Pembrey M E

Abstract excerpt

Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing the carrier state in...

Topics

Chromosome Mapping
DNA Probes
Ectodermal Dysplasia
Female
Genetic Linkage
Genetic Markers
Genetic Variation
Haplotypes
Humans
Hypohidrosis
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Genetic

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 2395159
DOI: 10.1136/jmg.27.7.422
PMCID: PMC1017178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2395159-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.PMID 2395159Read ↗

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