Associated Papers
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Dai E et al.
Investigative Ophthalmology & Visual Science, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Tian T et al.
Molecular Vision, 2019
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
Iarossi G et al.
Journal of Ophthalmology, 2017
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".
Iarossi G et al.
Journal of Ophthalmology, 2017
Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
Dailey WA et al.
Ophthalmology, 2015
Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.
Drenser KA et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2009
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