Variant: rs104894223 

    present in Gene: FZD4;PRSS23
    present in Chromosome: 11
    Position on Chromosome: 86951990
    Alleles of this Variant: T/C

rs104894223 in FZD4;PRSS23 gene and Exudative vitreoretinopathy 1 PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PMID 17093393 2006 Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

PMID 15733276 2005 Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

PMID 17955262 2008 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

PMID 15370539 2004 Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 12172548 2002 Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

PMID 14507768 2003 Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

PMID 19172507 2009 Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

PMID 15488808 2004 Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

PMID 15223780 2004 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

PMID 15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.