Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling

Rheumatology (Oxford). 2020 Nov 1;59(11):e102-e104. doi: 10.1093/rheumatology/keaa301.
No abstract available

Publication types

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

MeSH terms

  • Calcinosis / etiology*
  • Connective Tissue Diseases / etiology*
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Female
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Interferon Type I / physiology
  • Intracellular Signaling Peptides and Proteins / genetics
  • Middle Aged
  • Signal Transduction

Substances

  • Interferon Type I
  • Intracellular Signaling Peptides and Proteins
  • SAMD9 protein, human