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

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 mild...

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Bibliographic Details
Main Authors: Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu, Shu-Hong Hu
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-021-00896-0