The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA

Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child
  • Chromosomes, Human, X / genetics
  • Contractile Proteins / genetics*
  • Family
  • Female
  • Filamins
  • Gene Duplication*
  • Humans
  • Male
  • Mental Retardation, X-Linked / diagnosis*
  • Mental Retardation, X-Linked / genetics*
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Microfilament Proteins / genetics*
  • Neural Cell Adhesion Molecule L1 / genetics*
  • Syndrome

Substances

  • Contractile Proteins
  • Filamins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Microfilament Proteins
  • Neural Cell Adhesion Molecule L1