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5. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency. Özbek MN; Demiral M; Unal E; Karaşin ND; Baran RT; Demirbilek H J Pediatr Endocrinol Metab; 2021 Nov; 34(11):1463-1468. PubMed ID: 34271604 [TBL] [Abstract][Full Text] [Related]
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11. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. Dias RP; Chan LF; Metherell LA; Pearce SH; Clark AJ Eur J Endocrinol; 2010 Feb; 162(2):357-9. PubMed ID: 19903795 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review. Pons Fernández N; Moriano Gutiérrez A; Taberner Pazos B; Tarragon Cros A; Díez Gandía E; Zuñiga Cabrera Á Ann Endocrinol (Paris); 2024 Feb; 85(1):70-81. PubMed ID: 37352919 [TBL] [Abstract][Full Text] [Related]
13. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Metherell LA; Chapple JP; Cooray S; David A; Becker C; Rüschendorf F; Naville D; Begeot M; Khoo B; Nürnberg P; Huebner A; Cheetham ME; Clark AJ Nat Genet; 2005 Feb; 37(2):166-70. PubMed ID: 15654338 [TBL] [Abstract][Full Text] [Related]
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