References
- Makrythanasis P, van Bon BW, Hoischen A, et al. : MLL2 mutation detected in 86 patients with Kabuki syndrome; a genotype-phenotype study. Clin Genet, 84:539-545, 2013. https://doi.org/10.1111/cge.12081
- Cheon CK, Ko JM : Kabuki syndrome: clinical and molecular characteristics. Korean J Pediatr, 58:317-324, 2015. https://doi.org/10.3345/kjp.2015.58.9.317
- Iida T, Park S, Kato K, Kitano I : Cleft palate in Kabuki syndrome: a report of six cases. Cleft Palate Craniofac J, 43:756-761, 2006. https://doi.org/10.1597/05-174
- Matsune K, Shimizu T, Maeda T, et al. : Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet, 98:185-190, 2001. https://doi.org/10.1002/1096-8628(20010115)98:2<185::AID-AJMG1029>3.0.CO;2-M
- Matsumoto N, Niikawa N : Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet, 117C:57-65, 2003. https://doi.org/10.1002/ajmg.c.10020
- Armstrong L, Abd El Moneim A, Allanson JE, et al. : Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A, 132A:265-272, 2005. https://doi.org/10.1002/ajmg.a.30340
- Schrander-Stumpel CT, Spruyt L, Schrander JJ, et al. : Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A, 132A:234-243, 2005. https://doi.org/10.1002/ajmg.a.30331
- Wilson GN : Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventative management. Am J Med Genet, 79:112-120, 1998. https://doi.org/10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S
- Hannibal MC, Buckingham KJ, Bamshad MJ, et al. : Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A, 155A:1511-1516, 2011.
- Li Y, Bogershausen N, Wollnik B, et al. : A mutation screen in patients with Kabuki syndrome. Hum Genet, 130:715-724, 2011. https://doi.org/10.1007/s00439-011-1004-y
- Micale L, Augello B, Merla G, et al. : Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients. Orphanet J Rare Dis, 6:38, 2011. https://doi.org/10.1186/1750-1172-6-38
- Paulussen AD, Stegmann AP, Schrander-Stumpel CT, et al. : MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat, 32:E2018-2025, 2011. https://doi.org/10.1002/humu.21416
- Banka S, Veeramachaneni R, Donnai D, 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, 20:381-388, 2012. https://doi.org/10.1038/ejhg.2011.220
- Miyake N, Mizuno S, Matsumoto N, et al. : KDM6A point mutations cause Kabuki syndrome. Hum Mutat, 34:108-110, 2013. https://doi.org/10.1002/humu.22229
- Niikawa N, Kuroki Y, Reynolds JF, et al. : Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet, 31:565-589, 1988. https://doi.org/10.1002/ajmg.1320310312
- Kennedy DB, Turley PK : The clinical management of ectopically erupting first permanent molars. Am J Orthod Dentofacial Orthop, 92:336-345, 1987. https://doi.org/10.1016/0889-5406(87)90335-0