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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 While much of the information is still relevant, some of it has become out-of-date.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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2016

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

Margot H, Geneviève D, Gatinois V, et al. "Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.

2013

Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract

Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract