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- Title
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
- Authors
Omoto, Satoshi; Hayashi, Takaaki; Kitahara, Kenji; Takeuchi, Tomokazu; Ueoka, Yasuo
- Abstract
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 Japanese families with two different mutations in the FZD4 gene.
- Publication
Ophthalmic genetics, 2004, Vol 25, Issue 2, p81
- ISSN
1381-6810
- Publication type
Journal Article
- DOI
10.1080/13816810490514270