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Article

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.

American journal of medical genetics. Part A - 1 Jul 2007

Ørstavik Karen Helene, Knudsen Gun Peggy S, Nordgarden Hilde, Ormerod Eli, Strømme Petter, Lazarou Lazarous P, Rosser Lyndon G, Prescott Trine, Houge Gunnar

Abstract excerpt

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromoso...

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Source

Identifiers

PMID: 17568423
DOI: 10.1002/ajmg.a.31797

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568423-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.PMID 17568423Read ↗

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[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion].Semantic proximity Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.Semantic proximity Read ↗

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.Semantic proximity Read ↗

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.Semantic proximity Read ↗

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.Semantic proximity Read ↗

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