Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/13816810701663543
Reference10 articles.
1. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
2. Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
3. A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy
4. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
5. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in theLRP5and/orFZD4genes
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1. Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes;Ophthalmology Science;2024-09
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3. Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature;Journal of Pediatric Ophthalmology & Strabismus;2020-11
4. Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy;Intractable & Rare Diseases Research;2020-02-29
5. Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape;Molecular Medicine;2019-12-31
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