Article
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
PloS one - 1 Jan 2012
Yuan Yongyi, Guo Weiwei, Tang Jie, Zhang Guozheng, Wang Guojian, Han Mingyu, Zhang Xun, Yang Shiming, He David Z Z, Dai Pu
Abstract excerpt
BACKGROUND: Mutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA). The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the incidence of EVA in Chinese population and to provide appropriate genetic testing and counseling to patients with SLC26A4 variants,...
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