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ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)
SUMMARY: PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral...
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| 出版年: | Endocrinol Diabetes Metab Case Rep |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Bioscientifica Ltd
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5404469/ https://ncbi.nlm.nih.gov/pubmed/28458897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-16-0135 |
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