Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988;31(3):565–89.
Article
CAS
PubMed
Google Scholar
Cheon CK, Ko JM. Kabuki syndrome: clinical and molecular characteristics. Korean J Pediatr. 2015;58(9):317–24.
Article
PubMed
PubMed Central
Google Scholar
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, et al. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019;56(2):89–95.
Article
PubMed
Google Scholar
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, et al. Exome sequencing identifies MLL2 mutations as a cause of kabuki syndrome. Nat Genet. 2010;42(9):790–3.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome. Am J Hum Genet. 2012;90(1):119–24.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011;155a(7):1511–6.
Article
PubMed
Google Scholar
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, et al. A mutation screen in patients with kabuki syndrome. Hum Genet. 2011;130(6):715–24.
Article
CAS
PubMed
Google Scholar
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, et al. MLL2 mutation spectrum in 45 patients with kabuki syndrome. Hum Mutat. 2011;32(2):E2018–25.
Article
CAS
PubMed
Google Scholar
Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked kabuki syndrome (KS2). Clin Genet. 2015;87(3):252–8.
Article
CAS
PubMed
Google Scholar
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2015;100(2):158–64.
Article
PubMed
Google Scholar
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, et al. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients. Hum Mutat. 2014;35(7):841–50.
Article
CAS
PubMed
PubMed Central
Google Scholar
Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013;34(1):108–10.
Article
CAS
PubMed
Google Scholar
Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. Orphanet J Rare Dis. 2019;14(1):255.
Article
PubMed
PubMed Central
Google Scholar
Geneviève D, Amiel J, Viot G, Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S. Atypical findings in kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A. 2004;129A:64–8.
Article
PubMed
Google Scholar
Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. Pituitary. 2014;17(6):569–74.
Article
CAS
PubMed
Google Scholar
Subbarayan A, Hussain K. Hypoglycemia in Kabuki syndrome. Am J Med Genet A. 2014;164a(2):467–71.
Article
PubMed
Google Scholar
Ma K, Chow S, Yau F. Isolated adrenocorticotropin deficiency in a child with kabuki syndrome. J Pediatr Endocrinol Metab. 2005;18:607–9.
Article
PubMed
Google Scholar
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, et al. Congenital hyperinsulinism as the presenting feature of kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019;21(1):233–42.
Article
CAS
PubMed
Google Scholar
Chu DC, Finley SC, Young DW, Proud VK. CNS malformation in a child with kabuki (Niikawa-Kuroki) syndrome: report and review. Am J Med Genet. 1997;72(2):205–9.
Article
CAS
PubMed
Google Scholar
Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SH. Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. J Pediatr Neurosci. 2013;8(3):259–60.
Article
PubMed
PubMed Central
Google Scholar
Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. A Japanese patient with kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain Dev. 2011;33(2):174–6.
Article
PubMed
Google Scholar
Ben-Omran T, Teebi AS. Structural central nervous system (CNS) anomalies in kabuki syndrome. Am J Med Genet A. 2005;137(1):100–3.
Article
CAS
PubMed
Google Scholar
McGaughran J, Aftimos S, Jefferies C, Winship I. Clinical phenotypes of nine cases of kabuki syndrome from New Zealand. Clin Dysmorphol. 2001;10(4):257–62.
Article
CAS
PubMed
Google Scholar
Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J. Identification of novel KMT2D mutations in two Chinese children with kabuki syndrome: a case report and systematic literature review. BMC Med Genet. 2018;19(1):31.
Article
PubMed
PubMed Central
Google Scholar
Mihci E, Tacoy S, Haspolat S, Karaali K. Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet. 2002;111(4):448–9.
Article
PubMed
Google Scholar
Takano T, Matsuwake K, Yoshioka S, Takeuchi Y. Congenital polymicrogyria including the perisylvian region in early childhood. Congenit Anom (Kyoto). 2010;50(1):64–7.
Article
Google Scholar
Di Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol. 1999;21(2):566–8.
Article
PubMed
Google Scholar
Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. 2015;16:26.
Article
CAS
PubMed
PubMed Central
Google Scholar
Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, et al. Cancer Management in Kabuki Syndrome: the first case of Wilms tumor and a literature review. J Pediatr Hematol Oncol. 2018;40(5):391–4.
Article
PubMed
Google Scholar
Boisgontier J, Tacchella JM, Lemaitre H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, et al. Anatomical and functional abnormalities on MRI in kabuki syndrome. Neuroimage Clin. 2019;21:101610.
Article
PubMed
Google Scholar
Santoro M, Coi A, Barisic I, Garne E, Addor MC, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, et al. Epidemiology of Dandy-Walker malformation in Europe: a EUROCAT population-based registry study. Neuroepidemiology. 2019;53(3–4):169–79.
Article
PubMed
Google Scholar
Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, Xu Y, Du P, Wang T, Hu R, Ye Z, Shi L, Tang X, Yan L, Gao Z, Chen G, Zhang Y, Chen L, Ning G, Bi Y, Wang W, ChinaMAP Consortium. The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. Cell Res. 2020;30(9):717–31. https://doi.org/10.1038/s41422-020-0322-9.
Bogershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PO, Barat-Houari M, Elcioglu NH, Wieczorek D, 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(9):847–64.
Article
PubMed
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, 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(5):405–24.
Article
PubMed
PubMed Central
Google Scholar