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Updated: Oct 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy

Rulian Zhao1,2, Shiyuan Wang3, Peiquan Zhao3

  • 1Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

Clinical & Experimental Ophthalmology
|February 8, 2022
PubMed
Abstract

Keywords:
FEVRLRP5 geneNorrin/β-catenin signallingvariants

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