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Article

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

Archivos argentinos de pediatria - 1 Dec 2015

Callea Michele, Yavuz Izzet, Clarich Gabriella, Cammarata-Scalisi Francisco

Abstract excerpt

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is...

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Identifiers

PMID: 26593813
DOI: 10.5546/aap.2015.e341

Genes

EDA

Provenance

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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[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].PMID 26593813Read ↗

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Hypohidrotic ectodermal dysplasia: clinical and molecular review.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?Semantic proximity Read ↗

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A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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