One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene

Haematologica. 2023 Oct 1;108(10):2872-2876. doi: 10.3324/haematol.2022.282457.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anemia* / genetics
  • Basic Helix-Loop-Helix Transcription Factors* / genetics
  • Humans
  • Phenotype
  • Promoter Regions, Genetic

Substances

  • Basic Helix-Loop-Helix Transcription Factors

Grants and funding

Funding: This research was funded by PRIN 2020 to AI (E67G21000010001 -Italian Minister of University and Research).