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Article

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.

BMC medical genomics - 11 Mar 2022

Dan Handong, Wang Dongdong, Huang Zixu, Shi Qianqian, Zheng Miao, Xiao Yuanyuan, Song Zongming

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variants in 20 Chinese families with FEVR. METHODS: All available family members underwent detailed ophthalmological examinations, including best-corrected visual acuity and fundus examination. All probands and most family members underwent...

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Identifiers

PMID: 35277167
DOI: 10.1186/s12920-022-01204-0
PMCID: PMC8915523

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Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.PMID 35277167Read ↗

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