| 1 | KABUK1, KDM6A, KMS3, KMT2D
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| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
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| Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
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| Hum Mutat 37(9):847-64. doi: 10.1002/humu.23026.
2016
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| 2 | KDM6A, KMS3
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| Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
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| Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Chris Lloyd I, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.
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| Clin Genet lin Genet. 2014 Feb 14. doi: 10.1111/cge.12363. [Epub ahead of print]
2014
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| 3 | KABUK1, KDM6A, KMS3, KMT2D
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| MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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| Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.
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| Am J Med Genet A 161(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. 2013
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| 4 | KDM6A, KMS3
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| KDM6A point mutations cause Kabuki syndrome.
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| Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
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| Hum Mutat 34(1):108-10. doi: 10.1002/humu.22229. Epub 2012 Oct 17.
2013
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| 5 | KABUK1, KDM6A, KMS3, KMT2D
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| Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome.
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| Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C.
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| Am J Hum Genet 90(1):119-24. Epub 2011 Dec 22. 2012
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