Article
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Human mutation - 1 Apr 2013
Taylor Kyle R, Deluca Adam P, Shearer A Eliot, Hildebrand Michael S, Black-Ziegelbein E Ann, Anand V Nikhil, Sloan Christina M, Eppsteiner Robert W, Scheetz Todd E, Huygen Patrick L M, Smith Richard J H, Braun Terry A, Casavant Thomas L
Abstract excerpt
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high degree of genetic heterogeneity and varying rates of progression. Accurate, comprehensive, and cost-effective genetic testing facilitates genetic counseling and provides valuable prognostic information to affected individuals. In this article, we describe the algorithm underlying...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.