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 While much of the information is still relevant, some of it has become out-of-date.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

2014

Micale L, Augello B, Maffeo C, et al. "Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients." Hum. Mutat.. 2014. Abstract

2012

Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract

2011

Casanova M, Selicorni A, Ferrari A. "Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.

Micale L, Augello B, Fusco C, et al. "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients." Orphanet J Rare Dis. 2011;6:38. Abstract