Ontology highlight
ABSTRACT:
SUBMITTER: Morgan A
PROVIDER: S-EPMC7690429 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Morgan Anna A Lenarduzzi Stefania S Spedicati Beatrice B Cattaruzzi Elisabetta E Murru Flora Maria FM Pelliccione Giulia G Mazzà Daniela D Zollino Marcella M Graziano Claudio C Ambrosetti Umberto U Seri Marco M Faletra Flavio F Girotto Giorgia G
Genes 20201022 11
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of <i>GJB2, GJB6,</i> and <i>MT-RNR1</ ...[more]