Article
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
The Journal of clinical investigation - 1 Jul 2016
Souma Tomokazu, Tompson Stuart W, Thomson Benjamin R, Siggs Owen M, Kizhatil Krishnakumar, Yamaguchi Shinji, Feng Liang, Limviphuvadh Vachiranee, Whisenhunt Kristina N, Maurer-Stroh Sebastian, Yanovitch Tammy L, Kalaydjieva Luba, Azmanov Dimitar N, Finzi Simone, Mauri Lucia, Javadiyan Shahrbanou, Souzeau Emmanuelle, Zhou Tiger, Hewitt Alex W, Kloss Bethany, Burdon Kathryn P, Mackey David A, Allen Keri F, Ruddle Jonathan B, Lim Sing-Hui, Rozen Steve, Tran-Viet Khanh-Nhat, Liu Xiaorong, John Simon, Wiggs Janey L, Pasutto Francesca, Craig Jamie E, Jin Jing, Quaggin Susan E, Young Terri L
Abstract excerpt
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP); however, the genes and molecular mechanisms involved in the etiology of these defects have not been fully characterized. Previously, we observed PCG-like phenotypes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.