- MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimee D C Paulussen
Department of Clinical Genetics, Maastricht UMC, Maastricht, The Netherlands
Hum Mutat 32:E2018-25. 2011..0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS...