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• W2081837369 abstract "Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin. Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types. The shaker-1, waltzer, Ames waltzer, and Jackson shaker mice provide murine models for four of the genetic forms of Usher syndrome. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. © 2004 Wiley-Liss, Inc." @default.
• W2081837369 created "2016-06-24" @default.
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• W2081837369 date "2004-01-01" @default.
• W2081837369 modified "2023-10-01" @default.
• W2081837369 title "Genetic heterogeneity in Usher syndrome" @default.
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• W2081837369 doi "https://doi.org/10.1002/ajmg.a.30052" @default.
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