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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...

詳細記述

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書誌詳細
出版年:J Endocr Soc
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Endocrine Society 2019
主題:
オンライン・アクセス: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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