MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Aimee D. C. Paulussen*, Alexander P. A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric E. J. G. L. Smeets, Annemieke M. A. Wagemans, Jaap J. P. Schrander, Marie Jose H. van den Boogaard, Jasper J. van der Smagt, Arie van Haeringen, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Grazia M. S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de RavelJean-Pierre Fryns, Hubert J T Smeets, Koenraad Devriendt, Constance T. R. M. Schrander-Stumpel

*Corresponding author for this work

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology