Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels. Die weiteren Skelettveränderungen führen zu Kleinwuchs. Auch wird eine mentale Retardierung beobachtet.
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Lederer D et al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 
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Miyake N et al. (2013) KDM6A point mutations cause Kabuki syndrome.
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Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
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Lederer D et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
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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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Niikawa N et al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
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OMIM.ORG article Omim 300867
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Orphanet article Orphanet ID 2322
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Wikipedia Artikel Wikipedia DE (Kabuki-Syndrom)
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