The Journal of clinical endocrinology and metabolism
Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.
Yasemin Cole, Sophie Howarth, Asna Javaid, Patrick Tarpey, Daniel Scoffings, Eamonn R Maher, Anna L Godfrey, Karel Pacak, Zhengping Zhuang, Hussam Alkaissi, Ruth T Casey
Published: 202610.1210/clinem/dgag003
Abstract
CONTEXT: Since the original discovery of the Pacak-Zhuang syndrome (PZS) in 2012, defined by the clinical triad of pheochromocytoma/paraganglioma (PPGL) and/or duodenal ampullar somatostatinoma with erythrocytosis, multiple multisystemic phenotypes h…
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