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Apparent mineralocorticoid excess: comprehensive overview of molecular genetics

Apparent mineralocorticoid excess is an autosomal recessive form of monogenic disease characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone metabolites. It is caused by defects in the HSD11B2 gene, e...

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Detalles Bibliográficos
Autores principales: Lu, Yi-ting, Zhang, Di, Zhang, Qiong-yu, Zhou, Ze-ming, Yang, Kun-qi, Zhou, Xian-liang, Peng, Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632093/
https://www.ncbi.nlm.nih.gov/pubmed/36329487
http://dx.doi.org/10.1186/s12967-022-03698-9

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