Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Clin Genet. 2008 Jan;73(1):94-6. doi: 10.1111/j.1399-0004.2007.00920.x. Epub 2007 Nov 14.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Child
  • Chromosome Inversion
  • Chromosomes, Human, X
  • Humans
  • Intellectual Disability / genetics*
  • Interleukin-1 Receptor Accessory Protein / genetics*
  • Male

Substances

  • IL1RAPL1 protein, human
  • Interleukin-1 Receptor Accessory Protein