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- W2384072011 abstract "Objective To investigate the phenotype and genetic characteristics of a large Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A large Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss (LFSNHL) was investigated.After obtaining informed consent from all participants,medical and audiological examination were performed to rule out any syndromic hearing impairment.DPOAE,ABR and vestibular function evaluation and computed tomography scan of the temporal bone were carried out in 2 patients to exclude auditory neuropathy and other possible aural disorders.Results Proband of the family had been diagnosed with low-frequency sensorinerural hearing loss.A Chinese family HB-S037 with non-syndromic hearing loss were ascertained.The mode of inheritance in the family should be autosomal dominant based on the pedigree.Hearing impairment of affected members in family HB-S037occured between10 to 25 years of age,mainly affecting low frequencies (250 ～ 500 Hz),yielding upsloping audiograms.Higher frequencies became involved with increasing age,thus producing flat-type audiograms.Conclusion A Chinese family with late-onset low-frequency senserineural hearing loss was clinically studied.The information should facilitate future gene scan and linkage analyses for novel relative genes contributing to low-frequency senserineural hearing loss." @default.
- W2384072011 created "2016-06-24" @default.
- W2384072011 creator A5015342715 @default.
- W2384072011 date "2010-01-01" @default.
- W2384072011 modified "2023-09-23" @default.
- W2384072011 title "Genetic and audiological characteristics of a Chinese family with autosamal dominant hereditary non-syndromic hearing loss" @default.
- W2384072011 hasPublicationYear "2010" @default.
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