Authors: Liu Yuying, Liu Qiong, Wan Wencui, Yang Ge, Xia Kun, Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2016.07.006 Published 2016-07-10 Cite as Chin J Exp Ophthalmol, 2016,34(7): 602-606. Abstract [Download PDF] [Read Full Text] Background Aniridia is a rare congenital hereditary eye disease.Studies determined that PAX6 gene mutation is closely associated […]
Tag: Pedigree
Genetic analysis of a Chinese family with congenital aniridia and detection of PAX6 mutation locus
Authors: Zhang Luxi, Yang Ge, Jia Jing, Wan Wencui, Yang Xin, Jin Xuemin DOI: 10.3760/cma.j.issn.2095-0160.2017.08.011 Published 2017-08-10 Cite as Chin J Exp Ophthalmol, 2017,35(8): 721-725. Abstract [Download PDF] [Read Full Text] Background Congenital aniridia is a rare bilateral hereditary ophthalmopathy which impact panocular.Researches showed that congenital aniridia can be caused by […]
Analysis of the genotype and phenotye in 3 pedigrees with Stargardt disease
Authors: Rong Weining, Ma Runqing, Fang Xinhe, Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2018.07.013 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 544-548. Abstract [Download PDF] [Read Full Text] Objective To analyze the relationship between genotype and phenotype in 3 pedigrees with Stargardt disease. Methods Three pedigrees with Stargardt disease were […]
Compound heterozygous mutations of CRB1 gene in a Chinese family with Leber congenital amaurosis by whole exome sequencing
Authors: Cao Yingjie, Xiao Xiaoqiang, Chen Shaowan, Zheng Yuqian, Chen Haoyu DOI: 10.3760/cma.j.issn.2095-0160.2018.07.008 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 526-530. Abstract [Download PDF] [Read Full Text] Objective To investigate the disease-causing mutation in a family with Leber congenital amaurosis (LCA). Methods A Chinese […]