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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 While much of the information is still relevant, some of it has become out-of-date.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: Keyword is Histone Demethylases [Clear All Filters]

2015

Bögershausen N, Tsai I-C, Pohl E, et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract

McVeigh TP, Banka S, Reardon W. "Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract

Dentici ML, Di Pede A, Lepri FR, et al. "Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract

2012

Lederer D, Grisart B, Digilio MC, et al. "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract