CDKL5 disruption by t(X;18) in a girl with West syndrome

Clin Genet. 2008 Sep;74(3):288-90. doi: 10.1111/j.1399-0004.2008.01048.x. Epub 2008 Jun 28.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 18 / genetics*
  • Chromosomes, Human, X / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Models, Genetic
  • Molecular Sequence Data
  • Protein Serine-Threonine Kinases / genetics*
  • Spasms, Infantile / genetics*
  • Translocation, Genetic*

Substances

  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human