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...

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Vydáno v:J Endocr Soc
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Adrenal
On-line přístup: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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