SUN-330 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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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Pang, Ying, Gupta, Garima, Jha, Abhishek, Wang, Herui, Yue, Xupeng, Huynh, Thanh-Truc, Li, Aiguo, Baker, Eva, Chew, Emily, Feelders, Richard, Korpershoek, Esther, Zhuang, Zhengping, Yang, Chunzhang, Pacak, Karel
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2019
Fag:
Tumor Biology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553219/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-330
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