Article
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Jan 2015
Choi Jin Woong, Min ByungJoo, Kim AhReum, Koo Ja-Won, Kim Chong-Sun, Park Woong-Yang, Chung Juyong, Kim Veronica, Ryu Yoon-Jong, Kim Shin Hye, Chang Sun-O, Oh Seung-Ha, Choi Byung Yoon
Abstract excerpt
OBJECTIVE: The aim of this study was to understand the prevalence and molecular genetic etiology of incomplete partition type III (IP type III) anomaly in Koreans. We also attempted to verify the prevalence of genomic deletions in the DFNX2 locus and to look for association between inheritance patterns and mutation type in East Asian IP type III subjects. STUDY DESIGN: Retrospective case review. SETTING: Tertiary...
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