Article
PAPPA2 c.392G>C Heterozygous Mutation Associates Primary Open-Angle Glaucoma in a Chinese Family.
Human mutation - 1 Jan 2026
Wang Gang, Guo Zilu, Ren Jing, Zhang Ge, Tao Hanlin, Liu Yihan, Zheng Siming, Zhang Xuan, Wang Di, Zhao Rumeng, Cui Huiling, Zhu Shichao, Xu Hongen, Duan Shichao, Li Haijun
Abstract excerpt
Approximately 60% of glaucoma patients have a family history. Family-based studies indicate that relatives of glaucoma patients have a 10-fold higher risk of developing glaucoma compared to the control population. Genetic mutations have been reported as potential contributing factors to pathogenesis of glaucoma. In this study, we reported a Chinese family that many members affected with primary open-angle...
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