| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8477542 | Molecular and Cellular Endocrinology | 2013 | 6 Pages |
Abstract
⺠Defects in ACTH receptor and steroidogenic pathway genes have previously been associated with FGD. ⺠New gene defects in MCM4 and NNT have recently been discovered in FGD. ⺠Novel pathogenetic mechanisms have therefore been recognized in familial glucocorticoid deficiency. ⺠Getting a genetic diagnosis for patients will be important for correct long term management and treatment of their disease.
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Authors
Eirini Meimaridou, Claire R. Hughes, Julia Kowalczyk, Leonardo Guasti, J. Paul Chapple, Peter J. King, Li F. Chan, Adrian J.L. Clark, Louise A. Metherell,