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- W2739895628 abstract "We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, us- ing binaural mean thresholds, disclosed on average a de- scending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial con- genital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hear- ing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with max- imum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1)." @default.
- W2739895628 created "2017-08-08" @default.
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- W2739895628 date "2000-01-01" @default.
- W2739895628 modified "2023-09-27" @default.
- W2739895628 title "R. J. H. Ensink · P. L. M. Huygen · P. Van Hauwe · P. Coucke · C. W. R. J. Cremers · G. Van Camp A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region" @default.
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