Frequency of Usher Syndrome in Two Pediatric Populations: Implications for genetic screening of Deaf and Hard of Hearing Children

PURPOSE: Usher syndrome is a major cause of genetic deafblindness. 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 dete...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kimberling, William J., Hildebrand, Michael S., Shearer, A. Eliot, Jensen, Maren L., Halder, Jennifer A., Cohn, Edward S., Weleber, Richard G., Stone, Edwin M., Smith, Richard J. H.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3131500/
https://ncbi.nlm.nih.gov/pubmed/20613545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e3181e5afb8
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