Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations

Rheumatology (Oxford). 2021 Dec 1;60(12):e429-e431. doi: 10.1093/rheumatology/keab513.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Core Binding Factor Alpha 2 Subunit / metabolism
  • DNA / genetics*
  • Dermatitis / diagnosis
  • Dermatitis / etiology*
  • Dermatitis / genetics
  • Humans
  • Male
  • Mutation*
  • Myelodysplastic Syndromes / complications
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / metabolism
  • Whole Genome Sequencing / methods

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human
  • DNA