Refining the phenotype of common mutations in Rett syndrome

J Med Genet. 2004 Jan;41(1):25-30. doi: 10.1136/jmg.2003.011130.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • Chromosomes, Human, X / genetics
  • Cohort Studies
  • CpG Islands / genetics
  • DNA-Binding Proteins / genetics
  • Dosage Compensation, Genetic
  • Female
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation / genetics*
  • Phenotype
  • Repressor Proteins / genetics
  • Rett Syndrome / genetics*

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins