Heterozygous RAD50 gene variant in a family with systemic sclerosis suggests role of impaired DNA repair mechanisms in disease pathogenesis

Clin Exp Dermatol. 2024 Apr 23;49(5):543-546. doi: 10.1093/ced/llad440.
No abstract available

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Acid Anhydride Hydrolases* / genetics
  • Adult
  • DNA Repair Enzymes* / genetics
  • DNA Repair* / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Scleroderma, Systemic* / genetics
  • Scleroderma, Systemic* / pathology

Substances

  • DNA Repair Enzymes
  • RAD50 protein, human
  • Acid Anhydride Hydrolases
  • DNA-Binding Proteins