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

• Main Authors: Ningjin Wu (Author), Husile Husile (Author), Liqing Yang (Author), Yaning Cao (Author), Xing Li (Author), Wenyan Huo (Author), Haihua Bai (Author), Yangjian Liu (Author), Qizhu Wu (Author)
• Format: Book
• Published: BMC, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 diagnosis of this disease. Methods Family data were collected to draw a pedi...