Article
Rare PECAM1 variants in three families with lymphedema.
Lymphology - 1 Jan 2020
Michelini S, Amato B, Kenanoglu S, Veselenyiova D, Dautaj A, Kurti D, Baglivo M, Dundar M, Krajcovic J, Miggiano G Ad, Aquilanti B, Matera G, Velluti V, Gagliardi L, Basha S H, Bertelli M
Abstract excerpt
PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare PECAM1 variants found in lymphedema patients with the development of lymphatic system malformations. Using NGS, we...
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