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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 While much of the information is still relevant, some of it has become out-of-date.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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Bögershausen N, Altunoglu U, Beleggia F, et al. "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.

Bögershausen N, Gatinois V, Riehmer V, et al. "Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2." Hum. Mutat.. 2016. Abstract

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

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Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract

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Schulz Y, Freese L, Mänz J, et al. "CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract