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A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family
Journal article   Peer reviewed

A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

Naveed Wasif, Muhammad Tariq, Ghazanfar Ali, Muhammad Jawad Hassan and Wasim Ahmad
Pediatric dermatology, Vol.27(1), pp.106-108
01/01/2010
DOI: https://doi.org/10.1111/j.1525-1470.2009.01062.x
PMID: 20199431

Abstract

Dermatology Life Sciences & Biomedicine Pediatrics Science & Technology
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 >= C] of the gene.

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