A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

BACKGROUND: 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. METHODS: We performed exome sequencing of DNA from...

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में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Lindhurst, Marjorie J., Sapp, Julie C., Teer, Jamie K., Johnston, Jennifer J., Finn, Erin M., Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L., Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A., Everman, David B., Golas, Gretchen, Greenstein, Robert M., Kato, B. Maya, Keppler-Noreuil, Kim M., Kuznetsov, Sergei A., Miyamoto, Richard T., Newman, Kurt, Ng, David, O’Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J., Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H., Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G., Schwartzberg, Pamela L., Darling, Thomas N., Tosi, Laura L., Mullikin, James C., Biesecker, Leslie G.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2011
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3170413/
https://ncbi.nlm.nih.gov/pubmed/21793738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1104017
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