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- W2149039983 abstract "Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family." @default.
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- W2149039983 date "1996-08-01" @default.
- W2149039983 modified "2023-10-16" @default.
- W2149039983 title "Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family" @default.
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- W2149039983 doi "https://doi.org/10.1093/hmg/5.8.1187" @default.
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