A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

• 主要な著者: Wen-Tao He (著者), Xiong Wang (著者), Wen Song (著者), Xiao-Dong Song (著者), Yan-Jun Lu (著者), Yan-Kai Lv (著者), Ting He (著者), Xue-Feng Yu (著者), Shu-Hong Hu (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing's syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic...