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Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.

Investigative ophthalmology & visual science - 3 Feb 2025

Yaylacioglu Tuncay Fulya, Reeves Melissa J, Yousaf Sairah, Ullah Ehsan, Guan Bin, Goetz Kerry E, Tumminia Santa J, Hufnagel Robert B

Abstract excerpt

Purpose: To report the variants and genotype-phenotype correlations in patients with familial exudative vitreoretinopathy (FEVR) included in the eyeGENE database. Methods: A retrospective study was conducted in a cohort of 122 eyeGENE patients from 114 families with FEVR. Clinical details and genetic test results were provided by referring clinicians and clinical laboratories in the eyeGENE network, respectively....

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Source

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Identifiers

PMID: 39903177
DOI: 10.1167/iovs.66.2.9
PMCID: PMC11801387

Genes

FZD4
TSPAN12
LRP5
NDP

Provenance

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