A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report

Abstract Background Primary bilateral macronodular adrenal hyperplasia (PBMAH), also known as adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia, is a rare cause of endogenous Cushing’s syndrome. In many familial cases of PBMAH, the variants in armadillo repeat containin...

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Bibliographic Details
Published in:BMC Endocrine Disorders
Main Authors: Wei Wang, Feng Wei
Format: Article
Language:English
Published: BMC 2022-08-01
Subjects:
Cushing’s syndrome
ACTH-independent macronodular adrenal hyperplasia
Primary bilateral macronodular adrenal hyperplasia
ARMC5
Variant
Case report
Online Access:https://doi.org/10.1186/s12902-022-01128-x

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