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...
Main Authors: | Jérôme Bouligand, Brigitte Delemer, Annie-Claude Hecart, Geri Meduri, Say Viengchareun, Larbi Amazit, Séverine Trabado, Bruno Fève, Anne Guiochon-Mantel, Jacques Young, Marc Lombès |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2010-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC2962642?pdf=render |
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