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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 While much of the information is still relevant, some of it has become out-of-date.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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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, Bruni S, Bruschi B, Carloni I, Coppa GV. "Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement." Clin. Dysmorphol.. 2002;11(1):71-2.

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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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Galán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, et al. "A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" Am. J. Med. Genet. A. 2004;125A(3):306-9. Abstract

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Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL. "Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children." Am. J. Med. Genet.. 1995;59(3):276-82. Abstract

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Geneviève D, Amiel J, Viot G, et al. "Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature." Am. J. Med. Genet. A. 2004;129A(1):64-8. Abstract

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Gidwani P, Segal E, Shanske A, Driscoll C. "Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome." Am. J. Med. Genet. A. 2007;143A(12):1338-41. Abstract

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Gillis R, Klar A, Gross-Kieselstein E. "The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child." Clin. Genet.. 1990;38(5):378-81. Abstract

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Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B. "Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract

Giudici V, Kanani M, Muthialu N, et al. "Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature." Cardiol Young. 2015:1-7. Abstract

Gohda Y, Oka S, Matsunaga T, et al. "Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia." Pediatr Int. 2015. Abstract

Gole H, Chuk R, Coman D. "Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review." Clinics and Practice. 2016;6(3).

González Armengod C, García-Alix A, del Campo M, Garrido JM, Quero J. "[Kabuki's syndrome. A recognizable picture from early infancy]." An. Esp. Pediatr.. 1997;47(4):429-31.

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Grunseich C, Fishbein TM, Berkowitz F, Shamim EA. "Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract

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Guo C, Chen LH, Huang Y, et al. "KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation." Oncotarget. 2013;4(11):2144-53. Abstract

Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.