Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding

Clin Dysmorphol. 2016 Jan;25(1):23-6. doi: 10.1097/MCD.0000000000000102.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Comparative Genomic Hybridization
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Humans
  • Infant
  • Jugular Veins / pathology
  • MEF2 Transcription Factors / genetics
  • Male
  • Seizures

Substances

  • MEF2 Transcription Factors
  • MEF2C protein, human