MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Exons
  • Female
  • Forkhead Transcription Factors / genetics
  • Gene Rearrangement
  • Genetic Variation
  • Humans
  • Infant
  • MADS Domain Proteins / genetics*
  • MEF2 Transcription Factors
  • Male
  • Mutation*
  • Myogenic Regulatory Factors / genetics*
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Protein Serine-Threonine Kinases / genetics
  • Rett Syndrome / diagnosis
  • Rett Syndrome / genetics*

Substances

  • FOXG1 protein, human
  • Forkhead Transcription Factors
  • MADS Domain Proteins
  • MEF2 Transcription Factors
  • MEF2C protein, human
  • Myogenic Regulatory Factors
  • Nerve Tissue Proteins
  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human