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GJB2基因突变致聋儿童的人工耳蜗植入效果
引用本文:孔颖,刘莎,王素菊,李淑静,梁爽. GJB2基因突变致聋儿童的人工耳蜗植入效果[J]. 中华医学杂志(英文版), 2013, 126(7)
作者姓名:孔颖  刘莎  王素菊  李淑静  梁爽
作者单位:Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,Beijing Tong Ren Hospital, Capital Medical University , Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education,China Rehabilitation Research Center for Deaf Children
基金项目:国家自然科学基金项目(面上项目,重点项目,重大项目);首都卫生发展科研基金
摘    要:背景:基因诊断技术的普及和推广,使得先天性听力障碍的儿童可以检测出致聋基因,其中在人工耳蜗植入患者中GJB2(gap junction protein beta 2,GJB2 )基因突变的发生率为26.5%。本文对31例GJB2基因突变致聋儿童人工耳蜗植入后听觉康复效果进行了随访评估,从而为评价此类患者人工耳蜗植入效果提供参考依据。

关 键 词:基因  GJB2  人工耳蜗  康复效果

Cochlear Implantation Effect on Deaf Children with Gap Junction Protein Beta 2 (GJB2) Gene Mutation
Abstract:Background The popularization and promotion of gene diagnosis technology makes it possible to detect deafness genes for children with congenital hearing impairment, and the proportion of gap junction protein beta 2 (GJB2) gene mutations in cochlear implant patients is 26.5%. We did follow-up evaluation on auditory rehabilitation effect for all 31 deaf children with GJB2 gene mutation after cochlear implantation to provide a reference for the cochlear implant effect evaluation of such patients.
Keywords:genetic   connexin26   cochlear implant   rehabilitation effect
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