A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability

Clin Dysmorphol. 2022 Jan 1;31(1):36-38. doi: 10.1097/MCD.0000000000000392.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Frameshift Mutation
  • Homozygote
  • Humans
  • Intellectual Disability* / genetics
  • Membrane Proteins / genetics*
  • Mutation
  • Pedigree
  • Siblings
  • Tumor Suppressor Proteins / genetics*

Substances

  • Membrane Proteins
  • TUSC3 protein, human
  • Tumor Suppressor Proteins