Condition: Familial Exudative Vitreoretinopathy


rs761919591 in LRP5 gene and Familial Exudative Vitreoretinopathy PMID 25711638 2015 Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

PMID 15024691 2004 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

rs80358284 in PRSS23;FZD4 gene and Familial Exudative Vitreoretinopathy PMID 24744206 2014 Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

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

PMID 20938005 2010 Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

PMID 27316669 2016 Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.

PMID 25711638 2015 Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

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