CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

Clin Genet. 2010 Jan;77(1):92-6. doi: 10.1111/j.1399-0004.2009.01286.x. Epub 2009 Oct 5.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, X / genetics
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Loci
  • Humans
  • Infant
  • Protein Serine-Threonine Kinases / genetics*
  • Spasms, Infantile / genetics*
  • Syndrome

Substances

  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human