A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

Neurosci Bull. 2018 Oct;34(5):854-858. doi: 10.1007/s12264-018-0236-4. Epub 2018 May 21.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Animals
  • Brain / growth & development*
  • Child
  • Eyelids / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Limb Deformities, Congenital / genetics
  • Mice
  • Microcephaly / genetics
  • Mutation, Missense
  • N-Myc Proto-Oncogene Protein / genetics*
  • Tracheoesophageal Fistula / genetics

Substances

  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein

Supplementary concepts

  • Oculodigitoesophagoduodenal syndrome