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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 While much of the information is still relevant, some of it has become out-of-date.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 Blok, Marinus J [Clear All Filters]

Journal Article

Schott DA, Blok MJ, Gerver WJM, Devriendt K, Zimmermann LJI, Stumpel CTRM. "Growth pattern in Kabuki syndrome with a KMT2D mutation." American Journal of Medical Genetics Part A. 2016;170(12):3172-3179.

Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract

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