Tag: Congenital aniridia

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, […]