A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

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第一作者： Zhijie,Niu

第一单位： Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

作者： Zhijie,Niu ^[1] ; Denise,Yan ^[2] ; Sara,Bressler ^[2] ; Lingyun,Mei ^[3] ; Yong,Feng ^[4] ; Xuezhong,Liu ^[5]

作者单位： Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. ^[1] Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. ^[2] Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China. ^[3] Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China. Electronic address: fengyong_hn@hotmail.com. ^[4] Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: x.liu1@med.miami.edu. ^[5]

关键词 DFNX4 Exome sequence Novel mutation SMPX X-linked hearing loss