Clinical application of genetic testing for deafness

被引：12
|
作者：
Smith, RJH [1 ]
机构：
[1] Univ Iowa, Dept Otorhinolaryngol, Mol Otolaryngol Res Labs, Iowa City, IA 52242 USA
[2] Univ Iowa, Interdept Genet Program, Iowa City, IA 52242 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 130A卷 / 01期
关键词：
genetic testing; deafness; GJB2; SLC26A4; WFS1;
D O I：
10.1002/ajmg.a.30053
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed. (C) 2004 Wiley-Liss, Inc.
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页码：8 / 12
页数：5
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