MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution

J Med Genet. 2002 Aug;39(8):586-8. doi: 10.1136/jmg.39.8.586.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Substitution / genetics
  • Brain Diseases, Metabolic, Inborn / etiology
  • Brain Diseases, Metabolic, Inborn / genetics
  • Chromosomal Proteins, Non-Histone*
  • CpG Islands / genetics*
  • DNA-Binding Proteins / genetics*
  • Developmental Disabilities / genetics
  • Female
  • Genetic Testing
  • Genetic Variation / genetics
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Intellectual Disability / genetics
  • Male
  • Methyl-CpG-Binding Protein 2
  • Microcephaly / genetics
  • Pedigree
  • Point Mutation / genetics*
  • Repressor Proteins / genetics*
  • Rett Syndrome / etiology
  • Rett Syndrome / genetics

Substances

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