Ontology highlight
ABSTRACT:
SUBMITTER: Poulter JA
PROVIDER: S-EPMC2820188 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
American journal of human genetics 20100201 2
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-beta-catenin signaling pathway. Recently, through a large-scale reverse genetic screen in mice, Junge and colleagues identified an additional member of this sig ...[more]