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6. Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. Naville D; Barjhoux L; Jaillard C; Faury D; Despert F; Esteva B; Durand P; Saez JM; Begeot M J Clin Endocrinol Metab; 1996 Apr; 81(4):1442-8. PubMed ID: 8636348 [TBL] [Abstract][Full Text] [Related]
7. Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. Penhoat A; Naville D; El Mourabit H; Buronfosse A; Berberoglu M; Ocal G; Tsigos C; Durand P; Bégeot M J Mol Med (Berl); 2002 Jul; 80(7):406-11. PubMed ID: 12110946 [TBL] [Abstract][Full Text] [Related]
8. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. Weber A; Toppari J; Harvey RD; Klann RC; Shaw NJ; Ricker AT; Näntö-Salonen K; Bevan JS; Clark AJ J Clin Endocrinol Metab; 1995 Jan; 80(1):65-71. PubMed ID: 7829641 [TBL] [Abstract][Full Text] [Related]
9. ACTH resistance syndromes. Huebner A; Elias LL; Clark AJ J Pediatr Endocrinol Metab; 1999 Apr; 12 Suppl 1():277-93. PubMed ID: 10698592 [TBL] [Abstract][Full Text] [Related]
10. Familial glucocorticoid deficiency: one syndrome, but more than one gene. Clark AJ; Cammas FM; Watt A; Kapas S; Weber A J Mol Med (Berl); 1997 Jun; 75(6):394-9. PubMed ID: 9231879 [TBL] [Abstract][Full Text] [Related]
11. [Familial glucocorticoid deficiency due to the ACTH receptor gene mutations]. Katsumata N Nihon Rinsho; 2002 Feb; 60(2):260-4. PubMed ID: 11857911 [TBL] [Abstract][Full Text] [Related]