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Article

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Investigative ophthalmology & visual science - 24 Feb 2015

Salvo Jason, Lyubasyuk Vera, Xu Mingchu, Wang Hui, Wang Feng, Nguyen Duy, Wang Keqing, Luo Hongrong, Wen Cindy, Shi Catherine, Lin Danni, Zhang Kang, Chen Rui

Abstract excerpt

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a developmental disease that can cause visual impairment and retinal detachment at a young age. Four genes involved in the Wnt signaling pathway were previously linked to this disease: NDP, FDZ4, LRP5, and TSPAN12. Identification of novel disease-causing alleles allows for a deeper understanding of the disease, better molecular diagnosis, and improved...

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Source

Open in PubMed Open full text

Identifiers

PMID: 25711638
DOI: 10.1167/iovs.14-16065
PMCID: PMC4365990

Genes

LRP5
NDP
TSPAN12

Provenance

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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