Article
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
Journal of translational medicine - 30 Sept 2011
Huang Shasha, Han Dongyi, Yuan Yongyi, Wang Guojian, Kang Dongyang, Zhang Xin, Yan Xiaofei, Meng Xiaoxiao, Dong Min, Dai Pu
Abstract excerpt
BACKGROUND: Mutations in SLC26A4 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 relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether...
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