Article
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.
PloS one - 1 Jan 2014
Pang Xiuhong, Chai Yongchuan, Sun Lianhua, Chen Dongye, Chen Ying, Zhang Zhihua, Wu Hao, Yang Tao
Abstract excerpt
Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families. In this study, we identified 7 families, 11 subjects with dominant GJB2 mutations by sequencing of GJB2 in 2168 Chinese Han probands with sensorineural hearing...
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