Article
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2010
Kimberling William J, Hildebrand Michael S, Shearer A Eliot, Jensen Maren L, Halder Jennifer A, Trzupek Karmen, Cohn Edward S, Weleber Richard G, Stone Edwin M, Smith Richard J H
Abstract excerpt
PURPOSE: Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.