Article
A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.
BMC medical genetics - 27 Mar 2018
Liu Qiuli, Tong Dali, Xu Jing, Yang Xingxia, Yi Yuting, Zhang Dianzheng, Wang Luofu, Zhang Jun, Zhang Yao, Li Yaoming, Chang Lianpeng, Chen Rongrong, Guan Yanfang, Yi Xin, Jiang Jun
Abstract excerpt
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, mutations in armadillo repeat containing 5 (ARMC5), a putative tumor suppressor gene, are thought to induce the disorder. The...
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