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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Makita Y et al. (1999) Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. |
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Hinrichs B et al. (2002) Defective clavicles in Kabuki syndrome. |
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Ming JE et al. (2003) Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. |
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Milunsky JM et al. (2003) Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. |
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White SM et al. (2004) Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. |
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Miyake N et al. (2004) On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. |
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Geneviève D et al. (2004) Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. |
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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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Turner C et al. (2005) Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. |
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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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Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome. |
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Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. |
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Ng SB et al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. |
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Li Y et al. (2011) A mutation screen in patients with 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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Banka S et al. (2012) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. |
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Halal F et al. (1989) Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. |
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Niikawa N et al. (1982) The dermatoglyphic pattern of the Kabuki make-up syndrome. |
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Kuroki Y et al. (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. |
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Ilyina H et al. (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. |
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Burke LW et al. (1995) Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. |
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Hughes HE et al. (1994) Coarctation of the aorta in Kabuki syndrome. |
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Franceschini P et al. (1993) Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. |
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Kobayashi O et al. (1996) Inheritance in Kabuki make-up (Niikawa-Kuroki) 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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Silengo M et al. (1996) Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome. |
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Tsukahara M et al. (1997) Dominant inheritance of Kabuki make-up syndrome. |
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Lerone M et al. (1997) Ectodermal abnormalities in Kabuki syndrome. |
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Fryns JP et al. (1998) Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. |
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Lo IF et al. (1998) Interstitial Dup(1p) with findings of Kabuki make-up syndrome. |
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Ewart-Toland A et al. (1998) Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. |
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OMIM.ORG article Omim 147920 |