Ontology highlight
ABSTRACT:
SUBMITTER: Yuan Y
PROVIDER: S-EPMC6974605 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Yuan Yongyi Y Li Qi Q Su Yu Y Lin Qiongfen Q Gao Xue X Liu Hankui H Huang Shasha S Kang Dongyang D Todd N Wendell NW Mattox Douglas D Zhang Jianguo J Lin Xi X Dai Pu P
European journal of human genetics : EJHG 20190920 2
Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial sensorineural hearing loss patients from China. DNA samples from 1127 individuals, including normal hearing controls (n = 616), sporadic SNHL patients (n = 433), and deaf individuals (n = 78) from 30 he ...[more]