A mouse model of Proteus syndrome.
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DOI: 10.1093/hmg/ddz116
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… read more here.
Keywords: proteus syndrome; negative cells; syndrome mice; gfp akt1e17k ... See more keywords