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Kids with Kabuki Syndrome

Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.

There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.

For a current site see one of the following:

http://allthingskabuki.org
https://www.kabukisyndromefoundation.org

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Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. "Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract

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Elsherbiny SM. "Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.

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Emmert-Buck LT, Preslan MW, Kathuria SS. "Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract

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Engelen JJM, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CTRM. "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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Evans SL, Kumar N, Rashid MH, Hughes DS. "New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.

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Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. "Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract

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Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract