Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling

To identify the pathogenic mutation and provide prenatal counseling and diagnosis in two large Chinese families with autosomal dominant all-frequency hearing loss.

Source: International Journal of Pediatric Otorhinolaryngology - January 21, 2018 Category: ENT & OMF Authors: Hongbo Cheng, Qin Zhang, Wenbin Wang, Qingxia Meng, Fuxin Wang, Minjuan Liu, Jun Mao, Yichao Shi, Wei Wang, Hong Li Source Type: research