Das Kabuki-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im KMT2D-Gen hervorgerufen wird. Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels und des Skelettes mit Kleinwuchs und mentaler Retardierung.
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Hoffman JD et al. (2005) Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. ![]() |
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Hoffman JD et al. (2005) Immune abnormalities are a frequent manifestation of Kabuki syndrome. ![]() |
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Bottani A et al. (2006) No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. ![]() |
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Maas NM et al. (2007) The C20orf133 gene is disrupted in a patient with Kabuki syndrome. ![]() |
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Kuniba H et al. (2008) Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. ![]() |
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Ng SB et al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. ![]() |
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Hannibal MC et al. (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. ![]() |
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Hughes HE et al. (1994) Coarctation of the aorta in Kabuki syndrome. ![]() |
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Li M et al. (1996) Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. ![]() |
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Lo IF et al. (1998) Interstitial Dup(1p) with findings of Kabuki make-up syndrome. ![]() |
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OMIM.ORG article Omim 147920![]() |