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

Hamartoma syndromes, exome sequencing, and a protean puzzle.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome. [N Engl J Med. 2011]
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, et al. N Engl J Med. 2011 Aug 18; 365(7):611-9. Epub 2011 Jul 27.