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The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis 被引量:1
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作者 Yilai Shu Lijun Wang +8 位作者 Xiaoting Cheng chayada tangshewinsirikul Weili Shi Yasheng Yuan Zhiqiang Yan Huawei Li Jun Shen Bing Chen Weiguo Zou 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2019年第9期445-449,共5页
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 medi... 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). 展开更多
关键词 CONGENITAL injuries diagnosis
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