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Article

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.

Orphanet journal of rare diseases - 23 Feb 2021

Körber Laura, Schneider Holm, Fleischer Nicole, Maier-Wohlfart Sigrun

Abstract excerpt

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic variants of the gene EDA and defined by a triad of hypotrichosis, hypo- or anodontia, and hypo- or anhidrosis which may lead to life-threatening hyperthermia. Although female carriers are less...

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Identifiers

PMID: 33622384
DOI: 10.1186/s13023-021-01735-2
PMCID: PMC7901220

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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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