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Article

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

Human mutation - 1 Aug 2005

Qin Minghui, Hayashi Hideyuki, Oshima Kenji, Tahira Tomoko, Hayashi Kenshi, Kondo Hiroyuki

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary blinding disorder that features defects in retinal vascular development. The mutations in the genes encoding the Wnt receptor pair, frizzled 4 (FZD4) and low-density-lipoprotein receptor-related protein 5 (LRP5), have been shown to cause FEVR. In this study we screened 56 unrelated patients with FEVR (31 familial and 25 simplex cases) for possible...

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Source

Identifiers

PMID: 15981244
DOI: 10.1002/humu.20191

Genes

LRP5
FZD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Semantic proximity Read ↗

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Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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