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Kabuki syndrom

Sist oppdatert:

19. juli 2022

  1. Cheon CK, Sohn YB, Ko JM, et al. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet 2014; 59: 321-5. pmid:24739679 PubMed
  2. Dentici ML, Di Pede A, Lepri FR, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child 2015; 100: 158-64. pmid:25281733 PubMed
  3. Petersen RB, Lindholm P, Bonde CT. Kabukisyndrom. Ukeskr Læger 2010; 172/18: 1384-5.
  4. Niikawa N, Matsuura N. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981: 99: 565–569.
  5. Adam MP, Hudkins L. Kabuki syndrome: a review. Clin Genet 2004; 67: 209-19. PubMed
  6. Ågrenska: Kabuki syndrom Nyhetsbrev 282. Besøkt juni 2010. www.agrenska.org
  7. Ogawa A, Yasumoto S, Tomoda Y et al. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003; 18: 549-51. PubMed
  8. Chen YH, Sun MH, Hsia SH, Lai CC, Wu WC. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). BMC Ophthalmol. 2014 Nov 24;14:143.PMID: 25421742 PubMed
  9. White SM, Thompson EM, Kidd A et al. Growth, behavior , and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet 2004; 127: 118-27. PubMed
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