Article
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
International journal of audiology - 1 May 2005
Sadeghi Mehdi, Cohn Edward S, Kimberling William J, Tranebjaerg Lisbeth, Möller Claes
Abstract excerpt
The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6...
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