Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease

CONTEXT: Somatic EPAS1 variants account for 5% to 8% of all pheochromocytoma and paragangliomas (PPGL) but are detected in over 90% of PPGL in patients with congenital cyanotic heart disease, where hypoxemia may select for EPAS1 gain-of-function variants. Sickle cell disease (SCD) is an inherited he...

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Detalles Bibliográficos
Autores principales: White, Gemma, Nonaka, Daisuke, Chung, Teng-Teng, Oakey, Rebecca J, Izatt, Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655516/
https://www.ncbi.nlm.nih.gov/pubmed/37285480
http://dx.doi.org/10.1210/clinem/dgad311

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