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De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
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
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