MON-378 Somatic HIF2α Mutation and Pheochromocytoma in a Patient with Cyanotic Congenital Heart Disease

Background: Pheochromocytoma and paraganglioma (PPGL) prevalence is increased in cyanotic congenital heart disease relative to the unaffected population. Chronic hypoxemia promotes stabilization of hypoxia inducible factors (HIFs), which activate downstream hypoxia responsive genes. Somatic mutation...

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Bibliografski detalji
Izdano u:J Endocr Soc
Glavni autori: Muir, Christopher, Dwight, Trisha, Center, Jacqueline, Greenfield, Jerry, Clifton-Bligh, Roderick, Lee, Paul
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Adrenal
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550643/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-378
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