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Tao Shen, Xuan Qiu, Xiaoming Lin, Jing Lin, Xiuling Li, Qiwen Chen, Liuqing Pan, Zhonghao Wang, Huangxuan Shen, Qingjiong Zhang & Jianhua Yan. (2022) Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus. Ophthalmic Genetics 43:1, pages 88-96.
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Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H. Hyman, Talia Eldar-Geva & Anat Blumenfeld. (2018) Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. Ophthalmic Genetics 39:4, pages 450-456.
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Articles from other publishers (5)
Qian Wang, Wen Bin Wei, Xiang Yu Shi & Wei Ning Rong. (2023) A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD. BMC Medical Genomics 16:1.
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Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen & Xun Xu. (2021) A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus. BMC Ophthalmology 21:1.
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Jing-Jing Qiu, Qian Zhang, Zi-xin Geng, Min Liu, Zi-lin Zhong, Jian-jun Chen & Fei Liu. (2019) Identification of a novel PAX6 mutation in a Chinese family with aniridia. BMC Ophthalmology 19:1.
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Claudia Yahalom, Anat Blumenfeld, Karen Hendler, Orly Wussuki-Lior, Michal Macarov, Mordechai Shohat & Samer Khateb. (2018) Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. Graefe's Archive for Clinical and Experimental Ophthalmology 256:11, pages 2157-2164.
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