Article
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Journal of medical genetics - 1 Apr 2003
Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B
Abstract excerpt
Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the second decade of...
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