Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.

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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Bibliographic Details
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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2962642?pdf=render

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http://europepmc.org/articles/PMC2962642?pdf=render

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