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A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
Authors
Marjorie Lindhurst,Julie Sapp
Jamie Teer,Jennifer Murphy,Erin Finn,Kathryn Peters,Joyce Turner,Jennifer Cannons,David Bick,Laurel Blakemore,Catherine Blumhorst,Knut Brockmann,Peter Calder,Natasha Cherman,Matthew Deardorff,David Everman,Gretchen Golas,Robert Greenstein,B. Kato,Kim Keppler‐Noreuil,Sergei Kuznetsov,Richard Miyamoto,Kurt Newman,David Ng,Kevin O’Brien,Steven Rothenberg,Douglas Schwartzentruber,Virender Singhal,Roberto Tirabosco,Joseph Upton,Shlomo Wientroub,Elaine Zackai,Kimberly Hoag,Tracey Whitewood-Neal,Pamela Robey,Pamela Schwartzberg,Thomas Darling,Laura Tosi,James Mullikin
+37 authors
,Leslie BieseckerPublished
Jul 27, 2011
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Abstract
The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state.
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