Ontology highlight
ABSTRACT:
SUBMITTER: Hilgert N
PROVIDER: S-EPMC4432478 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Hilgert N N Kahrizi K K Dieltjens N N Bazazzadegan N N Najmabadi H H Smith R J H RJ Van Camp G G
Journal of medical genetics 20090401 4
<h4>Background</h4>Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype.<h4>Objective</h4>To detect the disease-causing mutation in ...[more]