·Clinical Research· Genotypes and ocular and systemic clinical phenotypes of the Hermansky-Pudlak syndrome Yang Shangying1, Cheng Wanyu1, Zhang Yan2, Sheng Xunlun1,3 1Ningxia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, Yinchuan 750001, China; 2Electron Microscope Room, Science and Technology Center, Ningxia Medical University, Yinchuan 750001, China; 3Gansu Aier Optometry Hospital, Lanzhou 730000, China Corresponding […]
Tag: Whole exome sequencing
Screening of pathogenic mutation in a family with Axenfeld-Rieger syndrome by whole exome sequencing
·Clinical research· Pathogenic mutation screening in a family with Axenfeld-Rieger Syndrome by whole exome sequencing Wang Qi, Liu Xinna, Shao Zhengbo, Yuan Huiping Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical Universiiy, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Educatton, Future Medical Laboratory, the Second Affiilated Hospital of Harbin Medical […]
Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing
·Clinical Research· Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing Deng Fang, Cao Yingjie, Xie Lijing, Chen Shaowan, Xiao Xiaoqiang, Zhang Mingzhi Joint Shantou International Eye Center of Shantou University & The Chinese University of Hong Kong, Shantou 515041, China Corresponding author: Xiao Xiaoqiang, Email: […]
Clinical and genetic characteristics of a Han Chinese family with autosomal recessive enhanced S-cone syndrome
•Clinical Research• Clinical and genetic characteristics of a Han Chinese family with autosomal recessive enhanced S-cone syndrome Jiang Yongqiang, Chen Kang, Li Jie, Guo Haoyi Department of Ophthalmology, Henan Provincial People’s Hospital, Henan Eye Hospital, Henan Eye Institute, Zhengzhou 450003, China Corresponding […]
Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia
·Clinical Research· Clinical and genetic features of a Chinese family with ATF6-associated achromatopsia Zhu Tian, Li Hui, Wei Xing, Wu Shijing, Sun Zixi, Sui Ruifang Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China […]