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Ang S-Y, Uebersohn A, Spencer IC, et al. "KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
Guo C, Chen LH, Huang Y, et al. "KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation." Oncotarget. 2013;4(11):2144-53. Abstract
Benjamin JS, Pilarowski GO, Carosso GA, et al. "A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
Miyake N, Mizuno S, Okamoto N, et al. "KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
González Armengod C, García-Alix A, del Campo M, Garrido JM, Quero J. "[Kabuki's syndrome. A recognizable picture from early infancy]." An. Esp. Pediatr.. 1997;47(4):429-31.
Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J. "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13." J. Med. Genet.. 1995;32(3):227-30. Abstract
Stankiewicz P, Thiele H, Giannakudis I, et al. "Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression." Am. J. Med. Genet.. 2001;102(3):286-92. Abstract
Zannolli R, Buoni S, Macucci F, et al. "Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G." Brain Dev.. 2007;29(6):373-6. Abstract
Paik JM, Lim SY. "Kabuki Syndrome with Cleft Palate." Archives of Plastic Surgery. 2016;43(5):474.
Cogulu D, Oncag O, Celen E, Ozkinay F. "Kabuki Syndrome with additional dental findings: a case report." J Dent Child (Chic). 2008;75(2):185-7. Abstract
Arnaud M, Barat-Houari M, Gatinois V, et al. "[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
Burke LW, Jones MC. "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
Bokinni Y. "Kabuki syndrome revisited." J. Hum. Genet.. 2012;57(4):223-7. Abstract
Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. "Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation." Am. J. Med. Genet.. 2002;110(4):384-90. Abstract
Kluijt I, van Dorp DB, Kwee ML, et al. "Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. Abstract
Phillips S, Hemmady S, Thomas P, ODoherty D. "Kabuki syndrome presenting with congenital talipes equinovarus." J Pediatr Orthop B. 2005;14(4):285-6.
Atar M, Lee W, O'Donnell D. "Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy." Int J Paediatr Dent. 2006;16(3):222-6. Abstract
Turner C, Lachlan K, Amerasinghe N, et al. "Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort." Eur. J. Hum. Genet.. 2005;13(6):716-20. Abstract
Engelen JJM, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CTRM. "Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients." Am. J. Med. Genet. A. 2005;132A(3):276-7. Abstract
Li M, Zackai EH, Niikawa N, Kaplan PB, Driscoll DA. "Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2." Am. J. Med. Genet.. 1996;65(2):101-3. Abstract
Aguilera Albesa S, Botella Astorqui MP, Ocio Ocio I. "[Kabuki syndrome in the differential diagnosis of neonatal hypotonia]." An Pediatr (Barc). 2009;70(1):91-3.
Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP. "Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract
Milunsky JM, Cheney SM. "Kabuki syndrome in a Haitian patient." Am. J. Med. Genet.. 2001;100(2):172-4.
Chen C-P, Lin S-P, Tsai F-J, Chern S-R, Wang W. "Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract
Van Laarhoven PM, Neitzel LR, Quintana AM, et al. "Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart, and brain development." Hum. Mol. Genet.. 2015. Abstract