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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 While much of the information is still relevant, some of it has become out-of-date.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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Filters: Author is Schoumans, Jacqueline [Clear All Filters]

2013

Makrythanasis P, van Bon BW, Steehouwer M, et al. "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study." Clin. Genet.. 2013. Abstract

2006

Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.

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2005

Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. Abstract

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