1. 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. 21:51–61.
2. Genevieve D, Amiel J, Viot G, et al. 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:64–68.
3. White SM, Thompson EM, Kidd A, et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A. 2004. 127A:118–127.
4. Ming JE, Russell KL, Bason L, et al. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A. 2003. 123A:249–252.
5. Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988. 31:565–589.
6. Lim HS, Ahn JH, Rho SS, et al. A case of Kabuki syndrome with ocular manifestation. J Korean Ophthalmol Soc. 2007. 48:1728–1730.
7. 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. 13:716–720.