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Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort.

The British journal of ophthalmology - 1 Jan 2021

Wang Shiyuan, Zhang Xiang, Hu Yiqian, Fei Ping, Xu Yu, Peng Jie, Zhao Peiquan

Abstract excerpt

AIMS: To explore the clinical and genetical features of families with strictly confirmed familial exudative vitreoretinopathy (FEVR) in a large Chinese cohort. METHODS: A retrospective chart review study was conducted on the FEVR families diagnosed by both angiography and targeted next-generation sequencing in six FEVR known genes (FZD4, LRP5, TSPAN12, NDP, KIF11, ZNF408) in the probands and at least one...

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PMID: 32238352
DOI: 10.1136/bjophthalmol-2019-315598

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