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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update

5 Feb 2025

Abstract excerpt

BACKGROUND: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare cause of Cushing's syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 are responsible for 20-25% of apparently sporadic PBMAH cases and 80% of familial presentations. ARMC5 screening is now routinely performed for PBMAH patients and families. Based on literature...

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PMID: 39910635
DOI: 10.1186/s13023-025-03554-1

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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an updatePMID 39910635Read ↗

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