Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family

摘要：

　　Background The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods.

作者: Yan Tizhen Tang Ning Li Wugao Li Zhetao Tang Xiangrong Luo Shiqiang Yang Yan Li Jingwen Wang Lin Zeng Dingyuan Cai Ren

作者单位: Key Laboratory of birth defects prevention and control, Liuzhou, Guangxi 545001, P.R.China;Departmen Center of Hearing, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi 54500 Key Laboratory of birth defects prevention and control, Liuzhou, Guangxi 545001, P.R.China

会议类型: 国内会议

会议名称: 第十五次中国中西医结合耳鼻咽喉科专业委员会年会

会议地点: 浙江宁波

会议语种:英文

页码: 240-241

在线出版日期: 2016-07-29（万方平台首次上网日期，不代表论文的发表时间）