Authors: Xie Ting, Chen Qingshan, Liang Jia, Fang Dong, Chen Lu, Zhang Shaochong DOI: 10.3760/cma.j.cn115989-20230626-00023 Published： 2024 -10 -10 Citation: Xie Ting, Chen Qingshan, Liang Jia, et al. Genetic analysis of a family with posterior segment microphthalmia-retinoschisis and drusen syndrome[J]. Chin J Exp Ophthalmol, 2024, 42(10): 919-925. DOI: 10.3760/cma.j.cn115989-20230626-00023. ABSTRACT […]
Tag: Genetic analysis
Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6
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 […]
Clinical and molecular genetic study of a Chinese Han family with X-linked retinoschisis
Wang Tingting, Zhu Yihua, Fan Mengjie, Luo Xiaoling, Zhang Linyan, Zhang Daren, Ding Xiaoyan, Liu Xuyang DOI: 10.3760/cma.j.cn115989-20210922-00523 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 864-870. Abstract 【Download PDF】 【Read Full Text】 Objective To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with […]
Clinical and molecular genetics research of a Chinese Han family with Wagner syndrome
Authors: Cai Suping, Zhang Daren, Luo Xiaoling, Huang Longxiang, Wang Tingting, Xu Tingting, Liu Xuyang DOI: 10.3760/cma.j.cn115989-20210318-00184 Published 2022-10-10 Cite asChin J Exp Ophthalmol, 2022, 40(10): 914-919. Abstract [View PDF] [Read Full Text] Objective To explore the […]