Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.

Di WuWeiyuan HuangZhenhang XuShuo LiJie ZhangXiaohua ChenYan TangJinhong QiuZhixia WangXuchu DuanLuping Zhang

Published in: Molecular genetics & genomic medicine (2020)

Our results expanded the mutation spectrum and genotype-phenotype correlation of nonsyndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next-generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for nonsyndromic hearing loss.

Keyphrases

hearing loss
copy number
genome wide
high resolution
gene expression
working memory
circulating tumor
cell free