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 While much of the information is still relevant, some of it has become out-of-date.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

Dr. Jaap Schrander

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Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract

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Schrander-Stumpel CTRM, Spruyt L, Curfs LMG, Defloor T, Schrander JJP. "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management." Am. J. Med. Genet. A. 2005;132A(3):234-43. Abstract

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Schrander-Stumpel CTRM, Meinecke P, Wilson GN, et al. "The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. Abstract

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