Article
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
Journal of human genetics - 1 Jan 2007
Hu Hao, Wu Lingqian, Feng Yong, Pan Qian, Long Zhigao, Li Juan, Dai Heping, Xia Kun, Liang Desheng, Niikawa Norio, Xia Jiahui
Abstract excerpt
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA). The prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established in many ethnic groups, but the...
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