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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. 2013. Abstract
Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. "Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
Kim SJ, Cho SY, Maeng SH, et al. "A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. "Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
Lu J, Mo G, Ling Y, Ji L. "A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
Banka S, Lederer D, Benoit V, et al. "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)." Clin. Genet.. 2014. Abstract
Shahdadpuri R, Lynch SA, Murchan H, McMahon CJ. "A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage." Pediatr Cardiol. 2008;29(4):820-2. Abstract
Shinsky SA, Hu M, Vought VE, et al. "A non-active site SET domain surface crucial for the interaction of MLL1 and the RbBP5-ASH2L heterodimer within MLL family core complexes." J. Mol. Biol.. 2014. Abstract
Kuniba H, Sato D, Yoshiura K-ichiro, et al. "No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(14):1893-6.
Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
Miyake N, Shimokawa O, Harada N, et al. "No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.
Hempel JM, Jäger L, Naumann A, Schorn K. "[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
Braun OH, Schmid E. "[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]." Klin Padiatr. 1986;198(1):65-8. Abstract
Koutras A, Fisher S. "Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
Roccella M. "Niikawa-Kuroki syndrome." Minerva Pediatr.. 1999;51(7-8):271-8. Abstract
Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. "Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities." Int. J. Pediatr. Otorhinolaryngol.. 2006;70(5):885-9. Abstract
Frediani T, Lucarelli S, Bruni L. "Niikawa-Kuroki (Kabuki) syndrome in two siblings." Minerva Pediatr.. 2001;53(1):43-8. Abstract
Lüerssen K, Ptok M. "[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]." HNO. 2004;52(5):451-4. Abstract
Kaiser-Kupfer MI, Mulvihill JJ, Klein KL, Parry DM, Schlesinger SL. "The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black." Am. J. Ophthalmol.. 1986;102(5):667-8.
Gillis R, Klar A, Gross-Kieselstein E. "The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child." Clin. Genet.. 1990;38(5):378-81. Abstract
Mulvihill JJ, Kaiser-Kupfer MI. "Niikawa-Kuroki (Kabuki make-up) syndrome." Am. J. Med. Genet.. 1989;33(3):425.
Evans SL, Kumar N, Rashid MH, Hughes DS. "New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
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(4):570-3. Abstract
Chuah JL, Chuah JK, Brown R. "New fundus findings in a case of Kabuki syndrome." Eye (Lond). 2009;23(6):1483-5.
Wallerstein R, Sugalski RD. "A new case of MOMO syndrome." Clin. Dysmorphol.. 2010;19(1):1-4. Abstract