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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 While much of the information is still relevant, some of it has become out-of-date.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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Huh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS. "Cleft hand in Kabuki make-up syndrome: case report." J Hand Surg Am. 2011;36(4):653-7. Abstract

Hughes HE, Davies SJ. "Coarctation of the aorta in Kabuki syndrome." Arch. Dis. Child.. 1994;70(6):512-4. Abstract

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Hou J-W. "Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome." Chang Gung Med J. 2004;27(4):307-11. Abstract

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Hostoffer RW, Bay CA, Wagner K, et al. "Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies." Clin Pediatr (Phila). 1996;35(5):273-6.

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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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Hoffman JD, Ciprero KL, Sullivan KE, et al. "Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract

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Ho J, Fox D, Innes MA, et al. "Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia." J. Pediatr. Endocrinol. Metab.. 2010;23(9):975-9. Abstract

Ho HH, Eaves LC. "Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features." Dev Med Child Neurol. 1997;39(7):487-90. Abstract

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Hinrichs B, Gramss B, Meinecke P. "Defective clavicles in Kabuki syndrome." Genet. Couns.. 2002;13(4):477-9.

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Herz H-M. "Enhancer deregulation in cancer and other diseases." BioEssays. 2016;38(10):1003-1015.

Hempel JM, Jäger L, Naumann A, Schorn K. "[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract

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Hannibal MC, Buckingham KJ, Ng SB, et al. "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract

Handa Y, Maeda K, Toida M, et al. "Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate." J Craniomaxillofac Surg. 1991;19(3):99-101. Abstract

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Hamdi Kamel M, Gilmartin B, Mohan P, Hickey DP. "Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome." Pediatr Transplant. 2006;10(1):105-7. Abstract

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Hamahata A, Kamei W, Ishikawa M, Konoeda H, Yamaki T, Sakurai H. "Multiple Pilomatricomas in Kabuki Syndrome." Pediatr Dermatol. 2012. Abstract

Halal F, Gledhill R, Dudkiewicz A. "Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1989;33(3):376-81. Abstract

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van Haelst MM, Brooks AS, Hoogeboom J, et al. "Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract

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