A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.
作者信息
Zhao Xin, Lan Yan, Miao Jinfeng, Li Guo, Sun Wenzhe, Qiu Xiuli, Zhu Suiqiang, Zhu Zhou
机构信息
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
出版信息
Chin Med J (Engl). 2022 Oct 5;135(19):2375-2377. doi: 10.1097/CM9.0000000000001901.
Abstract
摘要
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