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 While much of the information is still relevant, some of it has become out-of-date.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

Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S. "Periorbital correction in Kabuki syndrome." Plast. Reconstr. Surg.. 2003;111(4):1461-4.

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Miyake N, Harada N, Shimokawa O, et al. "On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS." Am. J. Med. Genet. A. 2004;128A(2):170-2.

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Ku C-S, Naidoo N, Pawitan Y. "Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract

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

Yoon JK, Ahn KJ, Kwon BS, et al. "The strong association of left-side heart anomalies with Kabuki syndrome." Korean J Pediatr. 2015;58(7):256-62. Abstract

Torii Y, Yagasaki H, Tanaka H, et al. "Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract

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Wada A, Nakamura T, Yamaguchi T, et al. "Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency." J Child Orthop. 2012;6(4):261-7. Abstract

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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Bögershausen N, Altunoglu U, Beleggia F, et al. "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.