A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome

Chin Med J (Engl). 2022 Oct 5;135(19):2375-2377. doi: 10.1097/CM9.0000000000001901.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Humans
  • Middle Aged
  • Mutation
  • Siblings*
  • TATA-Binding Protein Associated Factors* / genetics

Substances

  • BRF1 protein, human
  • TATA-Binding Protein Associated Factors