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Article

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

Genetics and molecular research : GMR - 28 Aug 2015

Huang S X, Liang J L, Sui W G, Lin H, Xue W, Chen J J, Zhang Y, Gong W W, Dai Y, Ou M L

Abstract excerpt

Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we report a patient...

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Source

Identifiers

PMID: 26345974
DOI: 10.4238/2015.August.28.21

Genes

EDA

Variants

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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EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.PMID 26345974Read ↗

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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 ↗

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

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