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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 While much of the information is still relevant, some of it has become out-of-date.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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Mhanni AA, Chudley AE. "Genetic landmarks through philately--Kabuki theater and Kabuki syndrome." Clin. Genet.. 1999;56(2):116-7.

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Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract

Prasad C, Chudley AE. "Genetics and cardiac anomalies: the heart of the matter." Indian J Pediatr. 2002;69(4):321-32. Abstract

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Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. Abstract

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White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract

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Devriendt K, Lemli L, Craen M, de Zegher F. "Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome." Horm. Res.. 1995;43(6):303-6. Abstract

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Schott DA, Gerver WJM, Stumpel CTRM. "Growth Hormone Stimulation Tests in Children with Kabuki Syndrome." Hormone Research in Paediatrics. 2016;86(5):319-324.

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.