·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 […]
Tag: Pedigree
Genetic analysis of a Chinese family with cataract-microcornea syndrome
·Clinical research· Genetic analysis of a Chinese family with a cataract-microcornea syndrome Zhang Daren1, Lu Lan2, Zeng Jie3, Li Danli4, Wang Yun4, Wang Xizhen4, Huang Li2, Fan Ning4, Liu Xuyang1,5 1Xiamen Eye Center of Xiamen University, Xiamen 361000, China; 2Department of Ophthalmology, […]
A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree
Authors: Gu Jing, Yi Haoan, Zha Xu, Kong Yanbo, Jiang Weiyang, Yang Fang, Li Fan, He Yongshu DOI: 10.3760/cma.j.cn115989-20201012-00686 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 966-971. Abstract [View PDF] [Read Full Text] Objective To identify the pathogenic gene and inheritance […]