Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

Saudi Med J. 2016 Feb;37(2):215-6. doi: 10.15537/smj.2016.2.13593.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Beckwith-Wiedemann Syndrome / complications
  • Beckwith-Wiedemann Syndrome / genetics*
  • Child
  • Codon, Nonsense
  • Cyclin-Dependent Kinase Inhibitor p57 / genetics*
  • Hernia, Umbilical / etiology
  • Hernia, Umbilical / genetics*
  • Humans
  • Male
  • United Arab Emirates

Substances

  • CDKN1C protein, human
  • Codon, Nonsense
  • Cyclin-Dependent Kinase Inhibitor p57