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Article

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.

PloS one - 1 Jan 2018

Yu Liping, Zhang Junqing, Guo Xiaohui, Chen Xiaoyu, He Zhisong, He Qun

Abstract excerpt

To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two...

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Share to Adrenal Glands
Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29370219
DOI: 10.1371/journal.pone.0191602
PMCID: PMC5784932

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