Article
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.
Clinical genetics - 1 Jan 2009
Ahmed Z M, Riazuddin S, Khan S N, Friedman P L, Riazuddin S, Friedman T B
Abstract excerpt
Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing...
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