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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 While much of the information is still relevant, some of it has become out-of-date.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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Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. "Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract

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Valdez-Geraldo CM, García-Arias S, Valdez-Geraldo BM, García-Torres O. "[Kabuki make-up syndrome. A case report with cognitive failure and haematologic features]." Rev Neurol. 2009;48(5):278-9.

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Van der Meulen J, Speleman F, Van Vlierberghe P. "The H3K27me3 demethylase UTX in normal development and disease." Epigenetics. 2014;9(5). Abstract

Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP. "Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract

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Van Laarhoven PM, Neitzel LR, Quintana AM, et al. "Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart, and brain development." Hum. Mol. Genet.. 2015. Abstract

Van Lierde KM, Van Borsel J, Van Cauwenberge P. "Speech patterns in Kabuki make-up syndrome: a case report." J Commun Disord. 2000;33(6):447-61; quiz 461-2. Abstract

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Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. "Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract

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Vaux KK, Hudgins L, Bird LM, et al. "Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract

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Verhagen JMA, Oostdijk W, Terwisscha van Scheltinga CEJ, Schalij-Delfos NE, van Bever Y. "An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome." Eur J Med Genet. 2014;57(9):510-2. Abstract

Verloes A, Lesenfants S, Philippet B, Iyawa A, Laloux F, Koulischer L. "Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome." Genet. Couns.. 1996;7(4):277-82. 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

Vesseur A, Cillessen E, Mylanus E. "Cochlear Implantation in a Patient with Kabuki Syndrome." The Journal of International Advanced Otology. 2016;12(1):129-131.