Article
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Human mutation - 1 Feb 2011
Paulussen Aimée D C, Stegmann Alexander P A, Blok Marinus J, Tserpelis Demis, Posma-Velter Crool, Detisch Yvonne, Smeets Eric E J G L, Wagemans Annemieke, Schrander Jaap J P, van den Boogaard Marie-José H, van der Smagt Jasper, van Haeringen Arie, Stolte-Dijkstra Irene, Kerstjens-Frederikse Wilhelmina S, Mancini Grazia M, Wessels Marja W, Hennekam Raoul C M, Vreeburg Maaike, Geraedts Joep, de Ravel Thomy, Fryns Jean-Pierre, Smeets Hubert J, Devriendt Koenraad, Schrander-Stumpel Constance T R M
Abstract excerpt
Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transc...
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