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

Haematologica - 1 Oct 2023

Rosato Barbara Eleni, Marra Roberta, Del Giudice Federica, Nostroso Antonella, Gobbi Simona, Bruschi Barbara, Coccia Paola, Monaco Vittoria, Monti Maria, Iolascon Achille, Andolfo Immacolata, Russo Roberta

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PMID: 37102609
DOI: 10.3324/haematol.2022.282457
PMCID: PMC10543174

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