Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Primary glucocorticoid resistance (OMIM 138040) is a rare hereditary disease that causes a generalized partial insensitivity to glucocorticoid action, due to genetic alterations of the glucocorticoid receptor (GR). Investigation of adrenal incidentalomas led to the discovery of a family (eight affec...

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Autors principals: Bouligand, Jérôme, Delemer, Brigitte, Hecart, Annie-Claude, Meduri, Geri, Viengchareun, Say, Amazit, Larbi, Trabado, Séverine, Fève, Bruno, Guiochon-Mantel, Anne, Young, Jacques, Lombès, Marc
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2010
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2962642/
https://ncbi.nlm.nih.gov/pubmed/21042587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013563
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