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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Detalles Bibliográficos
Autores principales: Muir, Christopher, Dwight, Trisha, Center, Jacqueline, Greenfield, Jerry, Clifton-Bligh, Roderick, Lee, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550643/
http://dx.doi.org/10.1210/js.2019-MON-378

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550643/
http://dx.doi.org/10.1210/js.2019-MON-378

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