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Article

PSMD3 gene mutations cause pathological myopia.

Journal of medical genetics - 1 Sept 2023

Chen Jing, Lian Ping, Zhao Xiujuan, Li Jun, Yu Xiling, Huang Xia, Chen Shida, Lu Lin

Abstract excerpt

PURPOSE: Genetic factors play a prominent role in the pathogenesis of pathological myopia (PM). However, the exact genetic mechanism of PM remains unclear. This study aimed to determine the candidate mutation of PM in a Chinese family and explore the potential mechanism. METHODS: We performed exome sequencing and Sanger sequencing in a Chinese family and 179 sporadic PM cases. The gene expression in human tissue...

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PMID: 36948574
DOI: 10.1136/jmg-2022-108978

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