Article
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
PloS one - 1 Jan 2016
Kim Bong Jik, Kim Ah Reum, Lee Chung, Kim So Young, Kim Nayoung K D, Chang Mun Young, Rhee Jihye, Park Mi-Hyun, Koo Soo Kyung, Kim Min Young, Han Jin Hee, Oh Seung-Ha, Park Woong-Yang, Choi Byung Yoon
Abstract excerpt
CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic SNHL (NS-SNHL). We screened 32 Korean adult probands with postlingual NS-SNHL sporadically or in autosomal recessive fashion using targeted panel or whole exome...
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