Publications
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Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract
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Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.
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Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract
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Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients." Am. J. Med. Genet. A. 2005;132A(3):276-7. Abstract
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New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
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Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract
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An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
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