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Article

An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis.

JCI insight - 22 May 2023

Xu Ningda, Cai Yi, Li Jiarui, Tao Tianchang, Liu Caifei, Shen Yan, Li Xiaoxin, Zhang Leiliang, Zhao Mingwei, Shi Xuan, Li Jing, Huang Lvzhen

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder characterized by incomplete development of the retinal vasculature, which thereby affects retinal angiogenesis. But the genetic factors contributing to FEVR's development or pathogenesis remain elusive. In a Chinese family with FEVR with 19 members, by using whole-exome sequencing, we identified a candidate disease-causing DNA...

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Identifiers

PMID: 37053012
DOI: 10.1172/jci.insight.167032
PMCID: PMC10322688

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