MECP2 duplication in a patient with congenital central hypoventilation

Am J Med Genet A. 2010 Jun;152A(6):1591-3. doi: 10.1002/ajmg.a.33311.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Gene Duplication*
  • Humans
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Hypoventilation / genetics*
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*

Substances

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