Article
The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.
European journal of endocrinology - 1 Oct 2015
Correa Ricardo, Zilbermint Mihail, Berthon Annabel, Espiard Stephanie, Batsis Maria, Papadakis Georgios Z, Xekouki Paraskevi, Lodish Maya B, Bertherat Jerome, Faucz Fabio R, Stratakis Constantine A
Abstract excerpt
OBJECTIVE: Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing's syndrome (CS) that results in increased cortisol production and bilateral enlargement of the adrenal glands. Recent work showed that the disease may be caused by germline and somatic mutations in the ARMC5 gene, a likely tumor suppressor gene (TSG). We investigated 20 different adrenal nodules from one patient with PMAH for...
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