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• W2105864896 abstract "To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460).Clinical investigation.Tertiary referral center.Family members from a large 5-generation pedigree with sensorineural hearing impairment segregating as an autosomal dominant trait.Cross-sectional and longitudinal analyses of pure-tone audiometric data, and cross-sectional analyses of speech audiometry data.Overall, a flat to gently downsloping audiometric configuration was observed with a progression rate of approximately 0.8 dB/y across most frequencies. Speech recognition scores remained fairly good in relation to age and hearing level compared with a group of patients with presbycusis. Interindividual variability was observed in terms of subjective onset age and audiometric configuration. Two mutation carriers, who reported vestibular symptoms, underwent vestibular examination and showed hypofunction of the vestibular labyrinth.The audiometric phenotype of the Dutch family linked to DFNA15 with a novel mutation in POU4F3 is comparable to that observed in the original Israeli family linked to DFNA15. Relatively good speech recognition scores suggest outer hair cell involvement. DFNA15 may represent a cochleovestibular disorder." @default.
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• W2105864896 date "2008-03-01" @default.
• W2105864896 modified "2023-09-27" @default.
• W2105864896 title "Audiometric Characteristics of a Dutch Family Linked to DFNA15 With a Novel Mutation (p.L289F) in POU4F3" @default.
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• W2105864896 doi "https://doi.org/10.1001/archotol.134.3.294" @default.
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