A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Br J Haematol. 2020 Sep;190(5):e297-e301. doi: 10.1111/bjh.16819. Epub 2020 Jun 3.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Female
  • GATA2 Transcription Factor* / genetics
  • GATA2 Transcription Factor* / metabolism
  • Germ-Line Mutation*
  • Humans
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / metabolism
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / metabolism
  • Neoplasm Proteins* / genetics
  • Neoplasm Proteins* / metabolism

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human
  • Neoplasm Proteins