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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

6 May 2022

Abstract excerpt

Objective: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. It can be caused by ARMC5 germline pathogenic variants. In this study, we aimed to identify predictive criteria for ARMC5 variants. Methods: We included 352 consecutive index...

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Adrenal Hormones and Disorders
Pituitary Gland Disorders and Treatments
Sexual Differentiation and Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35521700
DOI: 10.1530/eje-21-1032

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