Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

<p>Abstract</p> <p>Background</p> <p>Mutations in <it>SLC26A4 </it>cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationshi...

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Bibliographic Details
Main Authors: Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu
Format: Article
Language:English
Published: BMC 2011-09-01
Series:Journal of Translational Medicine
Subjects:
<it>SLC26A4</it>
hearing loss
Mondini dysplasia
enlarged vestibular aqueduct
inner ear malformation.
Online Access:http://www.translational-medicine.com/content/9/1/167

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