Ontology highlight
ABSTRACT:
SUBMITTER: Tesolin P
PROVIDER: S-EPMC8535891 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Tesolin Paola P Fiorino Sofia S Lenarduzzi Stefania S Rubinato Elisa E Cattaruzzi Elisabetta E Ammar Lydie L Castro Veronica V Orzan Eva E Granata Claudio C Dell'Orco Daniele D Morgan Anna A Girotto Giorgia G
Genes 20211001 10
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. <i>SLC26A4</i> is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Whole-Exome Sequencing (WES), the analysis of t ...[more]