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Comment
. 2012 Feb;81(2):123-4.
doi: 10.1111/j.1399-0004.2011.01807.x. Epub 2011 Dec 13.

Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome

R A G De Souza  1
Affiliations
Comment

Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome

R A G De Souza. Clin Genet. 2012 Feb.
No abstract available

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Comment on

  • A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
    Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. Lindhurst MJ, et al. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27. N Engl J Med. 2011. PMID: 21793738 Free PMC article.

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