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Article

[Molecular updates on Usher syndrome].

Journal francais d'ophtalmologie - 1 Jan 2005

Roux A-F

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive disorder characterized by the association of sensorineural hearing loss and retinitis pigmentosa (RP). Usher syndrome is both clinically and genetically heterogeneous. Three clinical subtypes are defined with respect to vestibular dysfunction and the degree of hearing loss. Type I (USH1) patients have profound hearing loss and vestibular dysfunction from birth. Type...

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Identifiers

PMID: 15767904
DOI: 10.1016/s0181-5512(05)81030-7

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A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.Semantic proximity Read ↗

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