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Article

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype.

G3 (Bethesda, Md.) - 8 Sept 2016

Waluk Dominik P, Zur Gila, Kaufmann Ronnie, Welle Monika M, Jagannathan Vidhya, Drögemüller Cord, Müller Eliane J, Leeb Tosso, Galichet Arnaud

Abstract excerpt

X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked hypotrichosis and multifocal complete alopecia, almost complete absence of sweat and sebaceous glands, and altered dentition with missing and abnormally shaped...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27449516
DOI: 10.1534/g3.116.033225
PMCID: PMC5015951

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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