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

被引：2

作者：

Wasif, Naveed ^{[1
]}

Tariq, Muhammad ^{[1
]}

Ali, Ghazanfar ^{[1
]}

Hassan, Muhammad Jawad ^{[1
]}

Ahmad, Wasim ^{[1
]}

机构：

[1] Quaid I Azam Univ, Dept Biochem, Fac Biol Sci, Islamabad, Pakistan

来源：

PEDIATRIC DERMATOLOGY | 2010年 / 27卷 / 01期

关键词：

D O I：

10.1111/j.1525-1470.2009.01062.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：106 / 108

页数：3

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