Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of...

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Published in:Am J Hum Genet
Main Authors: Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Format: Artigo
Language:Inglês
Published: Elsevier 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473728/
https://ncbi.nlm.nih.gov/pubmed/28575650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.001
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