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, cilt.58, sa.1, ss.97-100, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Sayı: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.24953/turkjped.2016.01.015
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.97-100
  • Anahtar Kelimeler: Kabuki syndrome, epilepsy, EEG, MLL2, novel genetic mutation, NIIKAWA-KUROKI SYNDROME, MAKE-UP SYNDROME, PHENOTYPIC SPECTRUM, MENTAL-RETARDATION, EPILEPSY, POLYMICROGYRIA, ABNORMALITIES, MALFORMATION, EARS
  • Hacettepe Üniversitesi Adresli: Evet