MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Author(s):
Paulussen, A.D.C.; Stegmann, A.P.A.; Blok, M.J.; Tserpelis, D.; Posma-Velter, C.; Detisch, Y.; Smeets, E.E.J.G.L.; Wagemans, A.; Schrander, J.J.P.; Boogaard, M.J.H. van den; Smagt, J. van der; Haeringen, A. van; Stolte-Dijkstra, I.; Kerstjens-Frederikse, W.S.; Mancini, G.M.; Wessels, M.W.; Hennekam, R.C.M.; Vreeburg, M.; Geraedts, J.; Ravel, T. de; Fryns, J.P.; Smeets, H.J.; Devriendt, K.; Schrander-Stumpel, C.T.R.M.
Published
2011
Publication type
Article / Letter to editor
Kabuki syndromeKSMLL2histone methyl transferase
Date issued
2011-02-28
Language
English
Is part of
Human Mutation (2011), Vol. 32, no. 2, p. E2018-E2025
hdl
1887/108693
doi
10.1002/humu.21416