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Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience

1 Jan 2023

Abstract excerpt

Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25–40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were relatives from 8 different families recruited for genetic survey) confirmed PPGL followed in our institution. Patients with classic MEN2A/MEN2B phenotypes and at-risk...

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PMID: 37529773
DOI: 10.1530/eo-22-0091

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