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Editorial
. 2011 Aug 18;365(7):661-3.
doi: 10.1056/NEJMe1107384. Epub 2011 Jul 27.

Hamartoma syndromes, exome sequencing, and a protean puzzle

John M Opitz, Lynn B Jorde
Editorial

Hamartoma syndromes, exome sequencing, and a protean puzzle

John M Opitz et al. N Engl J Med. .
No abstract available

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  • 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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