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Article

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.

BMC ophthalmology - 29 Nov 2023

Li Jiayu, Wang Chanjuan, Zhang Shaochi, Cai Bo, Pan Bo, Sun Caihong, Qi Xiaolong, Ma Chunmei, Fang Wei, Jin Kangxin, Bi Xiaojun, Jin Zibing, Zhuang Wenjuan

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads to abnormal development of retinal blood vessels, resulting in vision impairment. This study aims to identify pathogenic variants by targeted exome sequencing in 9 independent pedigrees with FEVR and characterize the novel pathogenic variants by molecular dynamics simulation. METHODS: Clinical data were collected from 9...

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Identifiers

PMID: 38030997
DOI: 10.1186/s12886-023-03243-2
PMCID: PMC10685552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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