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Article

A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

Minerva pediatrica - 1 Feb 2012

Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) was first described in 1848 by Thurnam. HED belongs to ectodermal dysplasias (EDs), which are developmental impairments of ectodermal-derived tissues. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the EDs and consists in abnormal development of teeth, hair, and eccrine sweat glands. XLHED is determined by mutations in the ED1 gene, which is...

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Source

Identifiers

PMID: 22350046

Genes

EDA
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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