Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Ophthalmic genetics - 1 Jun 2004

Omoto Satoshi, Hayashi Takaaki, Kitahara Kenji, Takeuchi Tomokazu, Ueoka Yasuo

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by impaired vascularization of parts of the peripheral retina. Autosomal dominant FEVR (adFEVR), a major form of FEVR and assigned to chromosome 11q13-23 (EVR1) locus, is caused by deletion mutations in the C- terminal region of the frizzled-4 (FZD4) gene. This paper describes the clinical phenotype of adFEVR in two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 11
Share to Exudates and Transudates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frizzled Receptors

Share to Genes, Dominant

Share to Receptors, Cell Surface

Share to Receptors, G-Protein-Coupled

Share to Vitreous Body

Source

Identifiers

PMID: 15370539
DOI: 10.1080/13816810490514270

Genes

FZD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Molecular Characterization of FZD4, LRP5, and TSPAN12 in 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 ↗

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.Semantic proximity Read ↗

Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort.Semantic proximity Read ↗

Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.Semantic proximity Read ↗

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.