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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 While much of the information is still relevant, some of it has become out-of-date.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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2006

McMahon CJ, Reardon W. "The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome." Cardiol Young. 2006;16(1):30-3. Abstract

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2008

Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W. "Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome." Clin. Dysmorphol.. 2008;17(3):199-202.

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2012

Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract

2015

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