A mouse model of Proteus syndrome

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, v...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736390/
https://ncbi.nlm.nih.gov/pubmed/31194862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz116
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