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Article

A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.

Pediatric dermatology - 1 Jan 2000

Wasif Naveed, Tariq Muhammad, Ali Ghazanfar, Hassan Muhammad Jawad, Ahmad Wasim

Abstract excerpt

Hypohidrotic ectodermal dysplasia is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin: hair, teeth, and eccrine sweat glands. DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene.

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Source

Identifiers

PMID: 20199431
DOI: 10.1111/j.1525-1470.2009.01062.x

Genes

EDAR

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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