Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation

Ann Neurol. 2001 Nov;50(5):692. doi: 10.1002/ana.1272.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Chromosomal Proteins, Non-Histone*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Diagnosis, Differential
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Klinefelter Syndrome / diagnosis
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mosaicism / diagnosis*
  • Mosaicism / genetics
  • Mutation*
  • Polymerase Chain Reaction / methods
  • Repressor Proteins / genetics
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics*
  • X Chromosome / genetics

Substances

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