Article
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
The journal of gene medicine - 1 Apr 2017
Kim Bong Jik, Kim Ah Reum, Han Jin Hee, Lee Chung, Oh Doo Yi, Choi Byung Yoon
Abstract excerpt
BACKGROUND: Pathogenic variants of MYH14 are known to be associated (in either a syndromic or nonsyndromic manner) with hearing loss. Interestingly, all reported cases to date of MYH14-related nonsyndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset. METHODS: In the present study, targeted resequencing (TRS) of known deafness genes was...
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