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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 While much of the information is still relevant, some of it has become out-of-date.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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Journal Article

De Dios JAA, Javaid AA, Ballesteros E, Metersky ML. "An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease." Conn Med. 2012;76(1):15-8. Abstract

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

Duval R, Hammamji K, Aroichane M, Michaud JL, Ospina LH. "Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. Abstract

Oto J, Mano A, Nakataki E, et al. "An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage." J Anesth. 2008;22(4):460-3. Abstract

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Casado AI, Ruiz J, Oro J, Martínez C, Fernández I, Oliva P. "Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.

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Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract

Johnson G, Mayhew JF. "Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.

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Matsumura M, Yamada R, Kitani Y, et al. "Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract

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Hoffman JD, Zhang Y, Greshock J, et al. "Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract

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Geneviève 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(1):64-8. Abstract

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Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. "Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract

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Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B. "Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract

Kimberley KW, Morris CA, Hobart HH. "BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome." BMC Med. Genet.. 2006;7:46. Abstract

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Okada Y, Ono S, Tomomasa T, Inoue Y, Morikawa A. "Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.

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Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. "Biliary atresia and Kabuki syndrome: another case with long-term follow-up." Am. J. Med. Genet.. 2001;100(3):251.

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McGaughran JM, Donnai D, Clayton-Smith J. "Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.

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Cappuccio G, Rossi A, Fontana P, et al. "Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract

Mock JR, Kolb TM, Illei PB, Yang SC, Lederman HM, Merlo CA. "Bronchus Associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency." Am. J. Respir. Crit. Care Med.. 2016.

Maas NMC, Van de Putte T, Melotte C, et al. "The C20orf133 gene is disrupted in a patient with Kabuki syndrome." J. Med. Genet.. 2007;44(9):562-9. Abstract

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Shah M, Bogucki B, Mavers M, deMello DE, Knutsen A. "Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract

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Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. "A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract

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Ijichi O, Kawakami K, Matsuda Y, et al. "A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. Abstract

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Santiago J, Muszlak M, Goulois E, et al. "[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]." Arch Pediatr. 2010;17(5):588-93. Abstract

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Ito H, Mori K, Inoue N, Kagami S. "A case of Kabuki syndrome presenting West syndrome." Brain Dev.. 2007;29(6):380-2. Abstract

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Taranu M, Giralt CM, Padilla CV, et al. "Case report of an adolescent girl with Kabuki syndrome and kyphoscoliosis, resistant at the conservative orthopedic treatment." Scoliosis. 2012;7 Suppl 1:P4.