Ontology highlight
ABSTRACT:
SUBMITTER: Xia H
PROVIDER: S-EPMC6030853 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Xia Hong H Huang Xiangjun X Xu Hongbo H Guo Yi Y Hu Pengzhi P Deng Xiong X Yang Zhijian Z Liu An A Deng Hao H
Current genomics 20180801 5
<h4>Background</h4>Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.<h4>Objective</h4>This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.<h4>Methods</h4>A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Exome sequencing and Sanger sequencing were applied to identify the genetic basis for ANSD in this family ...[more]