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 […]