Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988;31:565–89.

Article  CAS  PubMed  Google Scholar 

Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981;99:570–3.

Article  CAS  PubMed  Google Scholar 

Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet. 2003;117C:57–65.

Article  PubMed  Google Scholar 

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A. 2004;127A:118–27.

Article  CAS  PubMed  Google Scholar 

Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet. 2005;67:209–19.

Article  CAS  PubMed  Google Scholar 

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790–3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Issaeva I, Zonis Y, Rozovskaia T, Orlovsky K, Croce CM, Nakamura T, et al. Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol Cell Biol. 2007;27:1889–903.

Article  CAS  PubMed  Google Scholar 

Bogershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat. 2016;37:847–64.

Article  PubMed  Google Scholar 

Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, et al. Dissecting KMT2D missense mutations in Kabuki syndrome patients. Hum Mol Genet. 2018;27:3651–68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, et al. Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ”. Genet Med. 2019;21:262–5.

Article  PubMed  Google Scholar 

Bogershausen N, Wollnik B. Unmasking Kabuki syndrome. Clin Genet. 2013;83:201–11.

Article  CAS  PubMed  Google Scholar 

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012;90:119–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schuettengruber B, Chourrout D, Vervoort M, Leblanc B, Cavalli G. Genome regulation by polycomb and trithorax proteins. Cell. 2007;128:735–45.

Article  CAS  PubMed  Google Scholar 

Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, et al. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. Oncogene. 1997;15:549–60.

Article  CAS  PubMed  Google Scholar 

Dubuc AM, Remke M, Korshunov A, Northcott PA, Zhan SH, Mendez-Lago M, et al. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma. Acta Neuropathol. 2013;125:373–84.

Article  CAS  PubMed  Google Scholar 

Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers P, et al. The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet. 1998;7:737–42.

Article  CAS  PubMed  Google Scholar 

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2012;20:381–8.

Article  CAS  PubMed  Google Scholar 

Kim JH, Yun S, Hwang SS, Shim JO, Chae HW, Lee YJ, et al. The 2017 Korean National Growth Charts for children and adolescents: development, improvement, and prospects. Korean J Pediatr. 2018;61:135–49.

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, et al. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clin Genet. 2020;98:562–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, et al. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med. 2021;23:1202–10.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A. 2005;132A:265–72.

Article  PubMed  Google Scholar 

Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, et al. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet. 2014;59:321–5.

Article  CAS  PubMed  Google Scholar 

Schott DA, Blok MJ, Gerver WJ, Devriendt K, Zimmermann LJ, Stumpel CT. Growth pattern in Kabuki syndrome with a KMT2D mutation. Am J Med Genet A. 2016;170:3172–9.

Article  CAS  PubMed  Google Scholar 

Schott DA, Gerver WJ, Stumpel CT. Growth hormone stimulation tests in children with kabuki syndrome. Horm Res Paediatr. 2016;86:319–24.

Article  CAS  PubMed  Google Scholar 

van Montfort L, Gerver WJM, Kooger BLS, Plat J, Bierau J, Stumpel C, et al. Follow-up study of growth hormone therapy in children with kabuki syndrome: two-year treatment results. Horm Res Paediatr. 2021;94:285–96.

Article  PubMed  Google Scholar 

Huether R, Dong L, Chen X, Wu G, Parker M, Wei L, et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun. 2014;5:3630.

Article  PubMed  Google Scholar 

Scala M, Morana G, Sementa AR, Merla G, Piatelli G, Capra V, et al. Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum. Pediatr Blood Cancer. 2019;66:e27831.

Article  PubMed  Google Scholar 

Barry KK, Tsaparlis M, Hoffman D, Hartman D, Adam MP, Hung C, et al. From genotype to phenotype-a review of kabuki syndrome. Genes. 2022;13:1761.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richet C, Maza A, Dreyfus I, Bourrat E, Mazereeuw-Hautier J. Childhood pilomatricomas: associated anomalies. Pediatr Dermatol. 2018;35:548–51.

Article  PubMed  Google Scholar 

Bernier FE, Schreiber A, Coulombe J, Hatami A, Marcoux D. Pilomatricoma associated with kabuki syndrome. Pediatr Dermatol. 2017;34:e26–e7.

Article  PubMed  Google Scholar 

Sierra J, Yoshida T, Joazeiro CA, Jones KA. The APC tumor suppressor counteracts beta-catenin activation and H3K4 methylation at Wnt target genes. Genes Dev. 2006;20:586–600.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol. 1992;1:63–77.

Article  CAS  PubMed  Google Scholar 

Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, et al. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet. 1995;56:127–31.

Article  CAS  PubMed  Google Scholar 

Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005;132A:263–4.

Article  PubMed  Google Scholar 

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011;155A:1511–6.

Article  PubMed  Google Scholar 

van Dongen LCM, Wingbermuhle PAM, van der Veld WM, Stumpel C, Kleefstra T, Egger JIM. Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome. J Intellect Disabil Res. 2019;63:498–506.