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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 While much of the information is still relevant, some of it has become out-of-date.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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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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Nakamura M, Mizuno S, Kumagai T. "[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract

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Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract

Miyake N, Mizuno S, Okamoto N, et al. "KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract