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Article

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

American journal of human genetics - 1 Apr 2004

Toomes Carmel, Bottomley Helen M, Jackson Richard M, Towns Katherine V, Scott Sheila, Mackey David A, Craig Jamie E, Jiang Li, Yang Zhenglin, Trembath Richard, Woodruff Geoffrey, Gregory-Evans Cheryl Y, Gregory-Evans Kevin, Parker Michael J, Black Graeme C M, Downey Louise M, Zhang Kang, Inglehearn Chris F

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Low Density Lipoprotein Receptor-Related Protein-5

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Source

Open in PubMed Open full text

Identifiers

PMID: 15024691
DOI: 10.1086/383202
PMCID: PMC1181948

Genes

FZD4
LRP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15024691-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

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

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

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

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

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.Semantic proximity Read ↗

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.Semantic proximity Read ↗

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