One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene-Reference-Cited by-同舟云学术

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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

Published:2023-04-27 Issue:10 Volume:108 Page:2872-2876
ISSN:1592-8721
Container-title:Haematologica
language:
Short-container-title:haematol

Author:

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

Publisher

Ferrata Storti Foundation (Haematologica)

Subject

Hematology

Reference15 articles.

1. Zivot A, Lipton JM, Narla A, Blanc L. Erythropoiesis: insights into pathophysiology and treatments in 2017. Mol Med. 2018; 24(1):11.

2. McMullin MF. Investigation and management of erythrocytosis. Curr Hematol Malig Rep. 2016; 11(5):342-347.

3. Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009; 23(5):834-844.

4. McMullin MF. Diagnosis and management of congenital and idiopathic erythrocytosis. Ther Adv Hematol. 2012; 3(6):391-398.

5. Prchal JF, Prchal JT. Molecular basis for polycythemia. Curr Opin Hematol. 1999; 6(2):100-109.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. On either side of homeostasis: EPAS1 gain- and loss-offunction mutations;Haematologica;2023-06-08

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