Article
The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.
PloS one - 1 Jan 2012
Li Lei, Lu Jingrong, Tao Zheng, Huang Qi, Chai Yongchuan, Li Xiaohua, Huang Zhiwu, Li Yun, Xiang Mingliang, Yang Jun, Yao Guoyin, Wang Yu, Yang Tao, Wu Hao
Abstract excerpt
Postnatal permanent childhood hearing impairment (PCHI) is frequent (0.25%-0.99%) and difficult to detect in the early stage, which may impede the speech, language and cognitive development of affected children. Genetic tests of common variants associated with postnatal PCHI in newborns may provide an efficient way to identify those at risk. In this study, we detected a strong association of the p.V37I exclusive...
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