Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion

Clin Dysmorphol. 2023 Apr 1;32(2):70-73. doi: 10.1097/MCD.0000000000000444. Epub 2022 Dec 27.
No abstract available

MeSH terms

  • Chromosome Deletion
  • Haploinsufficiency*
  • Humans
  • Intellectual Disability* / genetics
  • Repressor Proteins / genetics

Substances

  • CNOT2 protein, human
  • Repressor Proteins