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

Pubmed ID: 
22265017
Year: 
2012
Month: 
FEB
Volume: 
90
Issue: 
2
Citation: 
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. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. American Journal of Human Genetics 90 (2) : 290 - 4(2012) PubMed