A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

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Bekircan-Kurt C. E., Şimşek-Kiper P. Ö., Boduroğlu K., DERİCİOĞLU N.

Turkish Journal of Pediatrics, vol.58, no.1, pp.97-100, 2016 (SCI-Expanded, Scopus, TRDizin)

  • Publication Type: Article / Article
  • Volume: 58 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.24953/turkjped.2016.01.015
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.97-100
  • Keywords: Kabuki syndrome, epilepsy, EEG, MLL2, novel genetic mutation, NIIKAWA-KUROKI SYNDROME, MAKE-UP SYNDROME, PHENOTYPIC SPECTRUM, MENTAL-RETARDATION, EPILEPSY, POLYMICROGYRIA, ABNORMALITIES, MALFORMATION, EARS
  • Open Archive Collection: AVESIS Open Access Collection
  • Hacettepe University Affiliated: Yes