A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism

Clin Genet. 2015 Sep;88(3):297-9. doi: 10.1111/cge.12528. Epub 2014 Nov 13.
No abstract available

Publication types

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

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Female
  • Gene Duplication*
  • Gene Expression
  • Genes, X-Linked
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Nerve Tissue Proteins / genetics*
  • Pedigree

Substances

  • Nerve Tissue Proteins
  • Xpn protein, human