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

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 armad...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5870939/
https://ncbi.nlm.nih.gov/pubmed/29587644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0564-2
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