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Article

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

The British journal of ophthalmology - 1 Oct 2023

Wang Yingwei, Xiao Xueshan, Li Xueqing, Yi Zhen, Jiang Yi, Zhang Fengsheng, Zhou Lin, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

AIMS: To elucidate genetic background of early-onset high myopia (eoHM) and characteristics of ARR3-associated MYP26. METHODS: Variants in 14 genes reported to contribute to eoHM, including ARR3, were selected from exome sequencing data set and classified into different categories following American College of Medical Genetics and Genomics guidelines based on in silico prediction, associated phenotypes,...

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PMID: 36180177
DOI: 10.1136/bjo-2022-321511
PMCID: PMC10579186

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