Investigative ophthalmology & visual science۲۰۲۵نمایه شده در PubMed
Shuowei Chen, Zhen Yi, Yuxi Zheng, Yi Jiang, Dongwei Guo, Xiaoyun Jia, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang, Wenmin Sun
چکیده
Ocular albinism is an X-linked recessive genetic disorder that exhibits highly heterogeneous phenotypes involving significant visual deficits and pigmental changes in the eye due to GPR143 variants. The aim of this study is to describe the phenotypic spectra of patients with ocular albinism based…
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DOI: 10.1167/iovs.66.12.69