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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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Article
On-line přístup: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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