Article
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.
PloS one - 22 Oct 2010
Bouligand Jérôme, Delemer Brigitte, Hecart Annie-Claude, Meduri Geri, Viengchareun Say, Amazit Larbi, Trabado Séverine, Fève Bruno, Guiochon-Mantel Anne, Young Jacques, Lombès Marc
Abstract excerpt
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 af...
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