Article
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
International journal of pediatric otorhinolaryngology - 1 Oct 2011
Huang Shasha, Yuan Yongyi, Liu Jun, Han Dongyi, Kang Dongyang, Zhang Xin, Dong Min, Yan Xiaofei, Dai Pu
Abstract excerpt
BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. However, de novo or dominant mutation in GJB2 is not common in Chinese populations. METHODS: Two probands with hearing impairment from unrelated Chinese families are reported here....
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