A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagn...

Source: BMC Medical Genetics - March 20, 2019 Category: Genetics & Stem Cells Authors: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu and Qizhu Wu Tags: Research article Source Type: research