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Article

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

Ophthalmic genetics - 1 Dec 2007

Kondo Hiroyuki, Qin Minghui, Tahira Tomoko, Uchio Eiichi, Hayashi Kenshi

Abstract excerpt

PURPOSE: To report the clinical features of a patient with familial exudative vitreoretinopathy (FEVR) associated with homozygous R417Q mutation in the frizzled-4 gene (FZD4). METHODS: Clinical examination and mutation analysis by direct sequencing. RESULTS: A five-month-old girl was found to have leukocoria associated with retrolental fibroplasia in the right eye and a severe falciform retinal fold in the left...

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Source

Identifiers

PMID: 18161623
DOI: 10.1080/13816810701663543

Genes

FZD4

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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