ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

doi:10.1073/pnas.1220864110

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Article

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Proceedings of the National Academy of Sciences of the United States of America - 11 Jun 2013

Collin Rob W J, Nikopoulos Konstantinos, Dona Margo, Gilissen Christian, Hoischen Alexander, Boonstra F Nienke, Poulter James A, Kondo Hiroyuki, Berger Wolfgang, Toomes Carmel, Tahira Tomoko, Mohn Lucas R, Blokland Ellen A, Hetterschijt Lisette, Ali Manir, Groothuismink Johanne M, Duijkers Lonneke, Inglehearn Chris F, Sollfrank Lea, Strom Tim M, Uchio Eiichi, van Nouhuys C Erik, Kremer Hannie, Veltman Joris A, van Wijk Erwin, Cremers Frans P M

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which can result in retinal detachment and severe visual impairment. In a large Dutch FEVR family, we performed linkage analysis, exome sequencing, and segregation analysis of DNA variants. We identified putative disease-causing DNA variants in...

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PMID: 23716654
DOI: 10.1073/pnas.1220864110
PMCID: PMC3683717

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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.PMID 23716654Read ↗

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