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Article

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

Journal of medical genetics - 1 Jun 2011

Schneider Holm, Hammersen Johanna, Preisler-Adams Sabine, Huttner Kenneth, Rascher Wolfgang, Bohring Axel

Abstract excerpt

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by EDA gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the genotype-phenotype relationship, sweat gland function was assessed non-invasively in XLHED patients and healthy controls. SUBJECTS AND METHODS: In 36 genotyped XLHED...

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Source

Identifiers

PMID: 21357618
DOI: 10.1136/jmg.2010.084012

Genes

EDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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