Newborn genetic screening for hearing impairment: a population-based longitudinal study.
Chen-Chi WuChing-Hui TsaiChia-Cheng HungYin-Hung LinYi-Hsin LinFang-Li HuangPo-Nien TsaoYi-Ning SuYungling Leo LeeWu-Shiun HsiehPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12.