Article
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.
Hearing research - 1 Jan 2005
Yang Jiann-Jou, Tsai Chin-Chu, Hsu Hsiu-Mei, Shiao Jiun-Yih, Su Ching-Chyuan, Li Shuan-Yow
Abstract excerpt
Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-syndromic hearing loss associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia. In this study we evaluate the relationship between EVA and Mondini dysplasia in 10 prelingual deaf patients and PDS gene mutation. One of three mutations, IVS7-2A-->G,...
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