Condition: EXUDATIVE VITREORETINOPATHY 4 (disorder)


rs121908674 in LRP5 gene and EXUDATIVE VITREORETINOPATHY 4 (disorder) PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 16252235 2005 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

PMID 24715757 2014 Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members 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 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

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

PMID 16929062 2006 Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.