De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

Neurogenetics. 2002 Oct;4(2):107-8. doi: 10.1007/s10048-002-0137-5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomal Proteins, Non-Histone*
  • DNA-Binding Proteins / genetics*
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Humans
  • Infant
  • Male
  • Methyl-CpG-Binding Protein 2
  • Mutation
  • Repressor Proteins*
  • Rett Syndrome / genetics*

Substances

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