Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C

Clin Dysmorphol. 2010 Oct;19(4):222-224. doi: 10.1097/MCD.0b013e32833dc589.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Developmental Disabilities / genetics*
  • Electroencephalography
  • Female
  • Humans
  • Jugular Veins*
  • MADS Domain Proteins / genetics*
  • MEF2 Transcription Factors
  • Magnetic Resonance Imaging
  • Myogenic Regulatory Factors / genetics*

Substances

  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • MEF2C protein, human
  • Myogenic Regulatory Factors