Kabuki Syndrome with Cleft Palate

DOI QR Code

Paik, Joo Myong (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
Lim, So Young (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine)

Niikawa N, Matsuura N, Fukushima Y, et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981;99:565-9. https://doi.org/10.1016/S0022-3476(81)80255-7
Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42:790-3. https://doi.org/10.1038/ng.646
Schrander-Stumpel CT, Spruyt L, Curfs LM, et al. Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005;132:234-43.
Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2005;67:209-19.
Iida T, Park S, Kato K, et al. Cleft palate in Kabuki syndrome: a report of six cases. Cleft Palate Craniofac J 2006;43:756-61. https://doi.org/10.1597/05-174

Novel heterozygous variants in KMT2D associated with holoprosencephaly vol.96, pp.3, 2019, https://doi.org/10.1111/cge.13598
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome vol.17, pp.9, 2016, https://doi.org/10.1371/journal.pbio.3000087
Kabuki Syndrome-Clinical Review with Molecular Aspects vol.12, pp.4, 2016, https://doi.org/10.3390/genes12040468