Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications

J Med Genet. 2001 Dec;38(12):867-71. doi: 10.1136/jmg.38.12.867.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Exons / genetics
  • Female
  • Heteroduplex Analysis
  • Humans
  • Infant
  • Infant, Newborn
  • Methyl-CpG-Binding Protein 2
  • Mosaicism / genetics*
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Repressor Proteins*
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics*
  • Rett Syndrome / pathology

Substances

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