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A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

BACKGROUND: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of years, leading to delayed onset with severe conditions due to chronic mild hypercor...

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Detalles Bibliográficos
Autores principales: He, Wen-Tao, Wang, Xiong, Song, Wen, Song, Xiao-Dong, Lu, Yan-Jun, Lv, Yan-Kai, He, Ting, Yu, Xue-Feng, Hu, Shu-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108324/
https://www.ncbi.nlm.nih.gov/pubmed/33971873
http://dx.doi.org/10.1186/s12920-021-00896-0

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