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3 articles in GJC
Li Xueqing, Xiao Hui, Su Yihua, Xiao Xueshan, Li Shiqiang, Lin Shufen et al.
This study found genetic mutations cause nanophthalmos, with PRSS56/MFRP most common. Angle-closure glaucoma frequently complicates nanophthalmos, with specific gene mutations linked to distinct clinical features and glaucoma onset, guiding patient care.
Li Xueqing, Sun Wenmin, Xiao Xueshan, Fang Lei, Li Shiqiang, Liu Xing et al.
Studying CPAMD8 gene variants, researchers found biallelic mutations significantly enriched in primary open-angle and angle-closure glaucoma patients. This suggests CPAMD8 variants contribute to diverse adult-onset glaucoma forms.
Li Xueqing, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Wang Panfeng, Zhang Qingjiong
This study found rare MYOC missense variants, particularly in the olfactomedin domain, are strongly associated with primary open-angle glaucoma, guiding genetic testing and understanding disease mechanisms.
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