Ontology highlight
ABSTRACT:
SUBMITTER: Wafa TT
PROVIDER: S-EPMC7821283 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Wafa Talah T TT Faridi Rabia R King Kelly A KA Zalewski Christopher C Yousaf Rizwan R Schultz Julie M JM Morell Robert J RJ Muskett Julie J Turriff Amy A Tsilou Ekaterini E Griffith Andrew J AJ Friedman Thomas B TB Zein Wadih M WM Brewer Carmen C CC
Clinical genetics 20201103 2
Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we present a characterization of the vestibular phenotype of 90 patients with clinical presentation of Usher syndrome (59 females), aged 10.9 to 75.5 years, with genetic variants in eight ...[more]