Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

J Med Genet. 2003 May;40(5):e52. doi: 10.1136/jmg.40.5.e52.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Australia
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Dosage Compensation, Genetic
  • Genotype
  • Humans
  • Japan
  • Methyl-CpG-Binding Protein 2
  • Mutation, Missense / genetics*
  • Phenotype
  • Repressor Proteins*
  • Rett Syndrome / genetics*
  • Rett Syndrome / physiopathology*
  • United Kingdom

Substances

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