Article
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Clinical genetics - 1 Nov 2007
Cheng J, Han D Y, Dai P, Sun H J, Tao R, Sun Q, Yan D, Qin W, Wang H Y, Ouyang X M, Yang S Z, Cao J Y, Feng G Y, Du L L, Zhang Y Z, Zhai S Q, Yang W Y, Liu X Z, He L, Yuan H J
Abstract excerpt
We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in th...
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