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SUN-382 Heterogeneous Clinical Presentation In Familial Cases Of Primary Macronodular Adrenal Hyperplasia (PMAH): The Influence Of Somatic Event Of ARMC5.

Background: PMAH is a cause of adrenal hypercortisolism and it is a genetic disease linked to ARMC5 gene in most cases. Heterogenous phenotypes due to cortisol secretion and also due to different germline mutations in the ARMC5 have been described in around the world. The diversity of the molecular...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:J Endocr Soc
Main Authors: Brondani, Vânia, Conceicao, Barbara, Zerbini, Maria Claudia, Nishi, Mirian, Charchar, Helaine Laiz, Ferreira, Amanda, Tanno, Fabio, Srougi, Victor, Chambo, Jose, Almeida, Madson, Mendonca, Berenice, Lotfi, Claudimara, Fragoso, Maria
פורמט: Artigo
שפה:Inglês
יצא לאור: Endocrine Society 2019
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552987/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-382
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