A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1

Clin Genet. 2006 Dec;70(6):530-1. doi: 10.1111/j.1399-0004.2006.00712.x.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Exons / genetics
  • Female
  • Humans
  • Japan
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype*
  • Rett Syndrome / genetics*
  • Rett Syndrome / pathology
  • Sequence Analysis, DNA

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2