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Article

Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.

Clinical genetics - 1 Jun 2024

Hoem Gry, Pastore Arianna, Bratland Eirik, Christoffersen Terje, Stornaiuolo Mariano, Douzgou Sofia

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway also causes syndromic forms of the condition. Both heterozygous and biallelic pathogenic variants in the FZD4 gene, encoding the pathway's key protein frizzled-4, are known to cause FEVR....

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Source

Identifiers

PMID: 38361102
DOI: 10.1111/cge.14499

Genes

FZD4

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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