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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 While much of the information is still relevant, some of it has become out-of-date.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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Kuniba H, Tsuda M, Nakashima M, et al. "Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan." J. Med. Genet.. 2008;45(7):479-80.

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Devriendt K, Van den Berghe H, Fryns J-P, Van Reempst P. "Large congenital follicular ovarian cyst in a girl with Kabuki syndrome." Am. J. Med. Genet.. 1996;65(1):90-91.

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Teixeira VC, Neves MA, de Castro RA. "Latex allergy in a patient with Kabuki syndrome. Case report." Rev Bras Anestesiol. 2010;60(5):544-50. Abstract

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Keith BP, Robertson DL, Hentges KE. "Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network." Front Genet. 2014;5:434. Abstract

Kobayashi ET, Maruyama Y, Kobayashi K. "A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report." Eur J Orthod. 2001;23(2):205-13. Abstract

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Shalev SA, Clarke LA, Koehn D, et al. "Long-term follow-up of three individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2004;125A(2):191-200. Abstract

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Gabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A. "Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract

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Gabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A. "Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract

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Verrotti A, Agostinelli S, Cirillo C, et al. "Long-term outcome of epilepsy in Kabuki syndrome." Seizure. 2011;20(8):650-4. Abstract

Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. "Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. Abstract

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Franceschini P, Vardeu MP, Guala A, et al. "Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1993;47(3):423-5. Abstract

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David-Paloyo FP, Yang X, Lin J-L, Wong F-H, Wu-Chou Y-H, Lo L-J. "Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract

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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