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Article

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

Journal of medical genetics - 1 Feb 1998

Ferguson B M, Thomas N S, Munoz F, Morgan D, Clarke A, Zonana J

Abstract excerpt

Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as help distinguish XLHED from the rarer, clinically indistinguishable, autosomal recessive disorder ARHED. Recently, a...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

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Identifiers

PMID: 9507389
DOI: 10.1136/jmg.35.2.112
PMCID: PMC1051213

Genes

EDA

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.PMID 9507389Read ↗

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