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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 While much of the information is still relevant, some of it has become out-of-date.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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Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract

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M

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

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Miyake N, Shimokawa O, Harada N, et al. "No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.

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R

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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S

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