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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jiayu Li, Chanjuan Wang, Shaochi Zhang, Bo Cai, Bo Pan, Caihong Sun, Xiaolong Qi, Chunmei Ma, Wei Fang, Kangxin Jin, Xiaojun Bi, Zibing Jin, Wenjuan Zhuang
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Ophthalmology
Subjects:
Familial Exudative Vitreoretinophay (FEVR)
Genetic variant
LRP5
Molecular dynamics simulation
Molecular docking
DKK1
Online Access:https://doi.org/10.1186/s12886-023-03243-2

Internet

https://doi.org/10.1186/s12886-023-03243-2

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