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Article

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Sept 2014

Gagliardi Lucia, Schreiber Andreas W, Hahn Christopher N, Feng Jinghua, Cranston Treena, Boon Hannah, Hotu Cheri, Oftedal Bergithe E, Cutfield Richard, Adelson David L, Braund Wilton J, Gordon Richard D, Rees D Aled, Grossman Ashley B, Torpy David J, Scott Hamish S

Abstract excerpt

CONTEXT: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of adrenal Cushing's syndrome. Familial cases have been reported, but at the time we conducted this study, the genetic basis of BMAH was unknown. Recently, germline variants of armadillo repeat containing 5 (ARMC5) in patients with isolated BMAH and somatic, second-hit mutations in tumor nodules, were identified. OBJECTIVE: Our objective...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24905064
DOI: 10.1210/jc.2014-1265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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