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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. Simpson MA, et al. Among authors: cohen snuijf r. Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265017 Free PMC article.
Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N. Verhoeven WM, et al. Among authors: cohen snuijf r. Am J Med Genet A. 2013 Jan;161A(1):158-61. doi: 10.1002/ajmg.a.35597. Epub 2012 Nov 19. Am J Med Genet A. 2013. PMID: 23166010