Gene symbol: MECP2. Disease: Rett syndrome (atypical)

Hum Genet. 2005 Dec;118(3-4):547.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Codon, Nonsense
  • Female
  • Fragile X Syndrome / diagnosis
  • Humans
  • Intellectual Disability / genetics
  • Learning Disabilities / etiology
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation, Missense*
  • Phenotype
  • Rett Syndrome / diagnosis
  • Rett Syndrome / genetics*
  • Severity of Illness Index

Substances

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