Authors: Wang Dongdong, Du Jiao, Huang Zixu, Dan Handong, Lin Zuopeng, Song Zongming DOI: 10.3760/cma.j.cn115989-20240613-00151 Published： 2024 -10 -10 · Citation: Wang Dongdong, Du Jiao, Huang Zixu,et al. Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6[J]. Chin J Exp Ophthalmol, 2024, 42(10): 927-931. DOI: 10.3760/cma.j.cn115989-20240613-00151. ABSTRACT […]
Tag: PAX6 gene
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 […]
Genetic screening of the congenital aniridia and genotype-phenotype analysis
Authors: Li Jie, Li Zhanrong, Xing Yasi, Peng Haiying, Dai Shuzhen DOI: 10.3760/cma.j.issn.2095-0160.2019.11.009 Published 2019-11-10 Cite as Chin J Exp Ophthalmol, 2019,37(11): 896-900. Abstract [View PDF] [Read Full Text] Objective To explore the genotype-phenotype correlation among 3 pedigrees affected with congenital aniridia. Methods Clinical data and […]
Mutation analysis of Pax6 in Chinese patients with congenital aniridia
Authors：Hao Peng, Ying Ming, Han Ruifang, Wang Liming, Li Ningdong DOI: 10.3760/cma.j.issn.2095-0160.2016.10.007 Published 2016-10-10 Cite as Chin J Exp Ophthalmol, 2016,34(10): 900-904. Abstract [Download PDF] [Read Full Text] Background Congenital aniridia is a rare congenital autosomal dominant disease, which is shown as aniridia of double eyes, […]