Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jing-Jing Xu, Nana Song, Jiguang Peng, Zhiyu Peng
This study uses a stepwise approach combining multiplex PCR and exome sequencing to diagnose 64% of non-syndromic hearing loss patients, identifying 59 molecular diagnoses from 92 unrelated cases.
Scientific Reports · Feb 17, 2021Peer-reviewedGenetic & Genomic Medicine