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Article

Disruption of PIKFYVE causes congenital cataract in human and zebrafish.

eLife - 13 Jan 2022

Mei Shaoyi, Wu Yi, Wang Yan, Cui Yubo, Zhang Miao, Zhang Tong, Huang Xiaosheng, Yu Sejie, Yu Tao, Zhao Jun

Abstract excerpt

Congenital cataract, an ocular disease predominantly occurring within the first decade of life, is one of the leading causes of blindness in children. However, the molecular mechanisms underlying the pathogenesis of congenital cataract remain incompletely defined. Through whole-exome sequencing of a Chinese family with congenital cataract, we identified a potential pathological variant (p.G1943E) in PIKFYVE,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35023829
DOI: 10.7554/eLife.71256
PMCID: PMC8758139

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