A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome | Zendy

Marjorie J. Lindhurst | Zendy; Julie C. Sapp | Zendy; Jamie K. Teer | Zendy; Jennifer J. Johnston | Zendy; Erin Finn | Zendy; Kathryn F. Peters | Zendy; Joyce Turner | Zendy; Jennifer L. Cans | Zendy; David Bick | Zendy; Laurel C. Blakemore | Zendy; Catherine Blumhorst | Zendy; Knut Brockmann | Zendy; Peter Calder | Zendy; Natasha Cherman | Zendy; Matthew A. Deardorff | Zendy; David B. Everman | Zendy; Gretchen Golas | Zendy; Robert M. Greenstein | Zendy; B. Maya Kato | Zendy; Kim M. KepplerNoreuil | Zendy; Sergei A. Kuznetsov | Zendy; Richard T. Miyamoto | Zendy; Kurt D. Newman | Zendy; David Ng | Zendy; Kevin O’Brien | Zendy; Steven Rothenberg | Zendy; Douglas J. Schwartzentruber | Zendy; Virender K. Singhal | Zendy; Roberto Tirabosco | Zendy; Joseph Upton | Zendy; Shlomo Wientroub | Zendy; Elaine H. Zackai | Zendy; Kimberly Hoag | Zendy; Tracey Whitewood-Neal | Zendy; Pamela Gehron Robey | Zendy; Pamela L. Schwartzberg | Zendy; Thomas N. Darling | Zendy; Laura L. Tosi | Zendy; James C. Mullikin | Zendy; Leslie G. Biesecker | Zendy

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A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

Author(s) -

Marjorie J. Lindhurst,

Julie C. Sapp,

Jamie K. Teer,

Jennifer J. Johnston,

Erin Finn,

Kathryn F. Peters,

Joyce Turner,

Jennifer L. Cans,

David Bick,

Laurel C. Blakemore,

Catherine Blumhorst,

Knut Brockmann,

Peter Calder,

Natasha Cherman,

Matthew A. Deardorff,

David B. Everman,

Gretchen Golas,

Robert M. Greenstein,

B. Maya Kato,

Kim M. KepplerNoreuil,

Sergei A. Kuznetsov,

Richard T. Miyamoto,

Kurt D. Newman,

David Ng,

Kevin O’Brien,

Steven Rothenberg,

Douglas J. Schwartzentruber,

Virender K. Singhal,

Roberto Tirabosco,

Joseph Upton,

Shlomo Wientroub,

Elaine H. Zackai,

Kimberly Hoag,

Tracey Whitewood-Neal,

Pamela Gehron Robey,

Pamela L. Schwartzberg,

Thomas N. Darling,

Laura L. Tosi,

James C. Mullikin,

Leslie G. Biesecker

Publication year - 2011

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1104017

Subject(s) - proteus syndrome , germline mutation , akt1 , somatic cell , microbiology and biotechnology , mutation , protein kinase b , biology , mutant , cancer research , phosphorylation , genetics , gene

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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