Article
A mouse model of Proteus syndrome.
Human molecular genetics - 1 Sept 2019
Lindhurst Marjorie J, Brinster Lauren R, Kondolf Hannah C, Shwetar Jasmine J, Yourick Miranda R, Shiferaw Henoke, Keppler-Noreuil Kim M, Elliot Gene, Rivas Cecilia, Garrett Lisa, Gomez-Rodriguez Julio, Sebire Neil J, Hewitt Stephen M, Schwartzberg Pamela L, Biesecker Leslie G
Abstract excerpt
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. The presentation in affected individuals is variable, with a diversity of tissues demonstrating abnormalities. Common manifestations include skin and bony overgrowth, vascular malformations (VMs), cysts and benign tumors. We used two methods to create mouse models that had...
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