Article
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.
Molecular diagnosis & therapy - 1 Aug 2020
Paragliola Rosa Maria, Costella Alessandra, Corsello Andrea, Urbani Andrea, Concolino Paola
Abstract excerpt
BACKGROUND: Generalized glucocorticoid resistance is characterized by impaired cortisol signaling, resulting from mutations in the NR3C1 gene coding the human glucocorticoid receptor (hGR). Most of the pathogenic hGR variants are identified in the ligand-binding domain (LBD). However, we report a new case associated with a novel NR3C1 pathogenic variant in the N-terminal domain (NTD) of the hGR. METHODS: The...
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