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Article

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

European journal of human genetics : EJHG - 1 May 2001

Vincent M C, Biancalana V, Ginisty D, Mandel J L, Calvas P

Abstract excerpt

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterised by an abnormal development of eccrine sweat glands, hair and teeth. The ED1 gene responsible for the disorder undergoes extensive alternative splicing and to date few studies have concerned the full length transcript. We screened 52 unrelated families or sporadic cases for mutation in the full...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11378824
DOI: 10.1038/sj.ejhg.5200635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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