Article
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
International journal of pediatric otorhinolaryngology - 1 Apr 2013
Yao Gendong, Li Shouxia, Chen Dingli, Wang Huijun, Zhang Jin, Feng Zhixing, Guo Lili, Yang Zhiming, Yang Sujun, Sun Caixia, Zhang Xiaofang, Ma Duan
Abstract excerpt
OBJECTIVE: Enlarged vestibular aqueduct is the most common inner ear malformation in individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non-syndromic EVA. To date, more than 170 SLC26A4 mutations have been described. The aim of the present study was to detect and report genetic causes of four unrelated Chinese families with hearing loss. METHODS: We evaluated 4 families presenting...
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