Non-mosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome

BACKGROUND: Somatic mutations in hypoxia-inducible factor 2α (HIF2A) is associated with polycythemia-paraganglioma syndrome. Specifically, the classic presentation of female patients with recurrent paragangliomas (PGLs), polycythemia (at birth or in early childhood), and duodenal somatostatinomas ha...

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Pubblicato in:Cancer
Autori principali: Pang, Ying, Gupta, Garima, Jha, Abhishek, Yue, Xupeng, Wang, Herui, Huynh, Thanh-Truc, Li, Aiguo, Li, Liping, Baker, Eva, Chew, Emily, Feelders, Richard A., Korpershoek, Esther, Zhuang, Zhengping, Yang, Chunzhang, Pacak, Karel
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6443474/
https://ncbi.nlm.nih.gov/pubmed/30644531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cncr.31839
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