Article
Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.
Endocrine journal - 28 Mar 2018
Zhang Qian, Cui Liang, Gao Jiang-Ping, Yan Wen-Hua, Jin Nan, Chen Kang, Zang Li, Du Jin, Wang Xian-Ling, Guo Qing-Hua, Yang Guo-Qing, Yang Li-Juan, Ba Jian-Ming, Gu Wei-Jun, Lv Zhao-Hui, Dou Jing-Tao, Mu Yi-Ming, Lu Ju-Ming
Abstract excerpt
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative...
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