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 While much of the information is still relevant, some of it has become out-of-date.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

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

Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. "Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract

Sivaci R, Kahveci OK, Celik M, Altuntas A, Solak M. "Anesthesia management in Kabuki make-up syndrome." Saudi Med J. 2005;26(12):1980-2. Abstract

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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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Abdel-Salam GMH, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM. "Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination." Genet. Couns.. 2008;19(3):309-17. Abstract

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Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.

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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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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.

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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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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Akin Sari B, Karaer K, Bodur S, Soysal SA. "Case report: autistic disorder in Kabuki syndrome." J Autism Dev Disord. 2008;38(1):198-201.

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Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract

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Aoyagi S, Kumade M, Tanaka K, Aso K, Kosuga K, Ohishi K. "[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.

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Fujishiro M, Ogihara T, Tsukuda K, et al. "A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract

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Mihçi E, Taçoy S, Haspolat S, Karaali K. "Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 2002;111(4):448-9.

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Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. "Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;71(4):486-7.

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Kittayalaksakun S, Suttipong W, Srivuthana S. "Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract

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Iida T, Park S, Kato K, Kitano I. "Cleft palate in Kabuki syndrome: a report of six cases." Cleft Palate Craniofac. J.. 2006;43(6):756-61. Abstract

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Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract

Tanaka R, Takenouchi T, Uchida K, et al. "Congenital corneal staphyloma as a complication of Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2000-2. Abstract

Lange L, Pagnamenta AT, Lise S, et al. "A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia." Clin. Genet.. 2016. Abstract

Lindsley AW, Saal HM, Burrow TA, et al. "Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract

Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract