Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Human mutation - 1 Sept 2016
Bögershausen Nina, Gatinois Vincent, Riehmer Vera, Kayserili Hülya, Becker Jutta, Thoenes Michaela, Simsek-Kiper Pelin Özlem, Barat-Houari Mouna, Elcioglu Nursel H, Wieczorek Dagmar, Tinschert Sigrid, Sarrabay Guillaume, Strom Tim M, Fabre Aurélie, Baynam Gareth, Sanchez Elodie, Nürnberg Gudrun, Altunoglu Umut, Capri Yline, Isidor Bertrand, Lacombe Didier, Corsini Carole, Cormier-Daire Valérie, Sanlaville Damien, Giuliano Fabienne, Le Quan Sang Kim-Hanh, Kayirangwa Honorine, Nürnberg Peter, Meitinger Thomas, Boduroglu Koray, Zoll Barbara, Lyonnet Stanislas, Tzschach Andreas, Verloes Alain, Di Donato Nataliya, Touitou Isabelle, Netzer Christian, Li Yun, Geneviève David, Yigit Gökhan, Wollnik Bernd
Abstract excerpt
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we...
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