Ontology highlight
ABSTRACT:
SUBMITTER: Zhou K
PROVIDER: S-EPMC7549568 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Zhou Kai K Huang Lancheng L Feng Menglong M Li Xinlei X Zhao Yi Y Liu Fei F Wei Jiazhang J Qin Danxue D Lu Qiutian Q Shi Min M Qu Shenhong S Tang Fengzhu F
Molecular genetics & genomic medicine 20200807 10
<h4>Background</h4>Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.<h4>Methods</h4>We collected blood samples and clinical data from a pair of deaf twin sisters with EVA and their family members. As controls, a group of 500 normal-hearing people were enrolled in our study. Twenty-one exons and flanking ...[more]