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Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5

✍ Scribed by Xiaodong Jiao; Valerio Ventruto; Michael T. Trese; Barkur S. Shastry; J.Fielding Hejtmancik


Book ID
117854526
Publisher
American Society of Human Genetics
Year
2004
Tongue
English
Weight
343 KB
Volume
75
Category
Article
ISSN
0002-9297

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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