Publications

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McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. "Ring chromosome X in a child with manifestations of Kabuki syndrome." Am. J. Med. Genet.. 1997;70(1):37-42. Abstract
Ku C-S, Naidoo N, Pawitan Y. "Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract
Miyake N, Harada N, Shimokawa O, et al. "On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS." Am. J. Med. Genet. A. 2004;128A(2):170-2.
Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y. "A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome." Clin. Genet.. 2008;73(5):502-3.
Rouffiange L, Dusabe J-P, Docquier P-L. "Recurrent dislocation of the patella in kabuki make-up syndrome." Case Rep Orthop. 2012;2012:501453. Abstract
Ikegawa S, Sakaguchi R, Kimizuka M, Yanagisako Y, Tokimura F. "Recurrent dislocation of the patella in Kabuki make-up syndrome." J Pediatr Orthop. 1993;13(2):265-7. Abstract