Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability

Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Megalencephaly / genetics*
  • Megalencephaly / pathology
  • Microfilament Proteins / genetics*
  • Mutation / genetics

Substances

  • KPTN protein, human
  • Microfilament Proteins