CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures

Am J Med Genet A. 2021 Aug;185(8):2602-2606. doi: 10.1002/ajmg.a.62343. Epub 2021 May 21.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics*
  • Facies
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Haploinsufficiency*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Loss of Function Mutation
  • Male
  • Phenotype
  • Repressor Proteins / genetics*
  • Seizures / diagnosis*
  • Seizures / genetics*

Substances

  • CNOT2 protein, human
  • Repressor Proteins