Ontology highlight
ABSTRACT:
SUBMITTER: Pawlak-Osinska K
PROVIDER: S-EPMC6036948 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Pawlak-Osiñska K K Linkowska K K Grzybowski T T
Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 20180601 3
<h4>Summary</h4>This review focuses on the current knowledge of the genes responsible for non-syndromic hearing loss that can be useful for otoneurological diagnostic purposes. From among a large number of genes that have been associated with non-syndromic hearing impairment, we selected several best-known genes, including the COCH gene, GJB2, GJB6 and SLC26A4, and we describe their role and effects of mutations and prevalence of mutations in various populations. Next, we focus on genes associat ...[more]