A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

• Main Authors: Qiuli Liu (Author), Dali Tong (Author), Jing Xu (Author), Xingxia Yang (Author), Yuting Yi (Author), Dianzheng Zhang (Author), Luofu Wang (Author), Jun Zhang (Author), Yao Zhang (Author), Yaoming Li (Author), Lianpeng Chang (Author), Rongrong Chen (Author), Yanfang Guan (Author), Xin Yi (Author), Jun Jiang (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis. In many familial cases of BMAH, mutat...