A mouse model of Proteus syndrome

Abstract 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 over...

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Veröffentlicht in:	Human molecular genetics 2019-09, Vol.28 (17), p.2920-2936
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Biopsy Disease Models, Animal Genetic Association Studies - methods Genetic Loci Genetic Predisposition to Disease Genotype Humans Mice Mutation Phenotype Proteus Syndrome - diagnosis Proteus Syndrome - genetics Proto-Oncogene Proteins c-akt - genetics
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