Publications

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Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract
Prasad C, Chudley AE. "Genetics and cardiac anomalies: the heart of the matter." Indian J Pediatr. 2002;69(4):321-32. Abstract
Powell HWR, Hart PE, Sisodiya SM. "Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome." Dev Med Child Neurol. 2003;45(12):841-3. Abstract
Pottinger CC, Stiff RE, Holroyd JM, Davies SJ. "Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.
Phillips S, Hemmady S, Thomas P, ODoherty D. "Kabuki syndrome presenting with congenital talipes equinovarus." J Pediatr Orthop B. 2005;14(4):285-6.
Philip N, Meinecke P, David A, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases." Clin. Dysmorphol.. 1992;1(2):63-77. Abstract
Petzold D, Kratzsch E, Opitz C, Tinschert S. "The Kabuki syndrome: four patients with oral abnormalities." Eur J Orthod. 2003;25(1):13-9. Abstract
Peterson-Falzone SJ, Golabi M, Lalwani AK. "Otolaryngologic manifestations of Kabuki syndrome." Int. J. Pediatr. Otorhinolaryngol.. 1997;38(3):227-36. Abstract
Petersen RB, Lindholm P, Bonde CT. "[Kabuki syndrome]." Ugeskr. Laeg.. 1998;172(18):1384-5. Abstract
PeBenito R, Ferretti C. "Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child." Ann Ophthalmol. 1989;21(8):312-5. Abstract
Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R. "[Kabuki make-up syndrome. A report of 18 Spanish cases]." Rev Neurol. 2005;40(8):473-8. Abstract
Pagon RA, Downing AL, Ruvalcaba RH. "Kabuki make-up syndrome in a Caucasian." Ophthalmic Paediatr Genet. 1986;7(2):97-100. Abstract