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 FE
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
✍ Scribed by Carmel Toomes; Helen M. Bottomley; Richard M. Jackson; Katherine V. Towns; Sheila Scott; David A. Mackey; Jamie E. Craig; Li Jiang; Zhenglin Yang; Richard Trembath; Geoffrey Woodruff; Cheryl Y. Gregory-Evans; Kevin Gregory-Evans; Michael J. Parker; Graeme C.M. Black; Louise M. Downey; Kang Zhang; Chris F. Inglehearn
- Book ID
- 117854413
- Publisher
- American Society of Human Genetics
- Year
- 2004
- Tongue
- English
- Weight
- 715 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/383202
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Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the