| 2 | The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis显示文摘Conductive hearing loss is the impairment in the mechanical transduction of sound wave through the external ear and the middle ear.Although most cases are sporadic due to acquired causes such as infections(otitis media and otitis externa),cerumen obstruction,and injuries,congenital structural defects are uncommon for significant etiologies to recognize.Stapes ankylosis is characterized by conductive hearing loss.It may be difficult to differentiate from otosclerosis,the most common cause of progressive conductive hearing loss,by audiologic evaluation,when the diagnosis is delayed.Skeletal anomalies may be subtle,such that the syndrome may not be recognized(Brown et al.,2002). | Yilai Shu Lijun Wang Xiaoting Cheng Chayada Tangshewinsirikul Weili Shi Yasheng Yuan Zhiqiang Yan Huawei Li Jun Shen Bing Chen Weiguo Zou | 2019 | Journal of Genetics and Genomics2019，46，9： | 1 |
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