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Molecular and Cellular Endocrinology, ISSN 0303-7207, 05/2013, Volume 371, Issue 1-2, pp. 195 - 200
► Defects in ACTH receptor and steroidogenic pathway genes have previously been associated with FGD. ► New gene defects in MCM4 and NNT have recently been... 
Oxidative stress | Reactive oxygen species | Adrenal insufficiency | Familial glucocorticoid deficiency | POPULATION | VARIANTS | LIPOID ADRENAL-HYPERPLASIA | TRAFFICKING | ACUTE-REGULATORY-PROTEIN | CELL BIOLOGY | RECEPTOR ACCESSORY PROTEIN | ADRENOCORTICOTROPIN RECEPTOR | ENDOCRINOLOGY & METABOLISM | MUTATIONS | TYPE-2 | ACTH RECEPTOR | Cholesterol Side-Chain Cleavage Enzyme - metabolism | Steroid Metabolism, Inborn Errors - metabolism | Adrenal Insufficiency - genetics | Humans | Mitochondrial Proteins - genetics | Phosphoproteins - metabolism | NADP Transhydrogenase, AB-Specific - genetics | Adrenal Gland Diseases - genetics | Minichromosome Maintenance Complex Component 4 | Receptor, Melanocortin, Type 2 - metabolism | DNA-Binding Proteins - metabolism | Receptor, Melanocortin, Type 2 - genetics | Mitochondrial Proteins - metabolism | Cell Cycle Proteins - genetics | Membrane Proteins - metabolism | Nuclear Proteins - genetics | Steroid Metabolism, Inborn Errors - genetics | Membrane Proteins - genetics | Cell Cycle Proteins - metabolism | Nuclear Proteins - metabolism | Phosphoproteins - genetics | DNA-Binding Proteins - genetics | NADP Transhydrogenase, AB-Specific - metabolism | Adrenal Insufficiency - metabolism | Carrier Proteins - genetics | Carrier Proteins - metabolism | Adrenal Glands - metabolism | Glucocorticoids - biosynthesis | Genetic research | Niacinamide | Genetic aspects | Corticosteroids | Genes | Steroids | Proteins | Mutations | Cellular | Glucocorticoids | Chromosomes | Patients | Defence
Journal Article
Journal Article
Frontiers in endocrinology, ISSN 1664-2392, 2019, Volume 10, p. 359
Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor ( ) gene, characterized... 
ACTH | Genetic aspects | Corticosteroids | cortisol | familial glucocorticoid deficiency (FGD) type 1 | skin hyperpigmentation | cholestasis | melanocortin 2 receptor (MC2R) | hypoglycemia
Journal Article
Indian Journal of Dermatology, ISSN 0019-5154, 03/2017, Volume 62, Issue 2, pp. 191 - 194
Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive potentially life -threatening condition, characterized by glucocorticoid... 
Diffuse mucocutaneous hyperpigmentation | familial glucocorticoid deficiency | Oral glucocorticosteroid | MELANOSIS | RECEPTOR GENE | MUTATIONS | DERMATOLOGY | Dosage and administration | Corticosteroids | Research | Original
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2016, Volume 9, pp. 15 - 17
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to respond appropriately to stimulation by... 
MRAP | Familial glucocorticoid deficiency | ACTH resistance | RECEPTOR | GENE | GENETICS & HEREDITY
Journal Article
Neonatology, ISSN 1661-7800, 09/2011, Volume 100, Issue 3, pp. 277 - 281
Journal Article
BBA Clinical, ISSN 2214-6474, 06/2015, Volume 3, pp. 70 - 78
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder that is characterized by isolated glucocorticoid deficiency. Recently,... 
Oxidative stress | Familial glucocorticoid deficiency | Mitochondrial biogenesis | Mitochondrial replication | Oxidative phosphorylation | Nicotinamide nucleotide transhydrogenase
Journal Article
BMC Endocrine Disorders, ISSN 1472-6823, 12/2012, Volume 12, Issue 1, pp. 32 - 32
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 09/2010, Volume 2, Issue 3, pp. 122 - 125
Journal Article