Article
CCDC66 mutations are associated with high myopia through affected cell mitosis.
Journal of medical genetics - 21 Feb 2024
Chen Xiaozhen, Tong Ping, Jiang Ying, Cheng Zhe, Zang Liyu, Yang Zhikuan, Lan Weizhong, Xia Kun, Hu Zhengmao, Tian Qi
Abstract excerpt
BACKGROUND: High myopia (HM) refers to an eye refractive error exceeding -5.00 D, significantly elevating blindness risk. The underlying mechanism of HM remains elusive. Given the extensive genetic heterogeneity and vast genetic base opacity, it is imperative to identify more causative genes and explore their pathogenic roles in HM. METHODS: We employed exome sequencing to pinpoint the causal gene in an HM...
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