Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity
DOI 10.1007/s00439-002-0806-3
Genin E, Huebner A, Jaillard C, Faury A, Halaby G, et al. Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet 2002;111:428-34. (Pubitemid 36075072)
The majority of ACTH receptor (MC2R) mutations found in familial glucocorticoid deficiency type 1 lead to defective traffick-ing of the receptor to the cell surface
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, et al. The majority of ACTH receptor (MC2R) mutations found in familial glucocorticoid deficiency type 1 lead to defective traffick-ing of the receptor to the cell surface. J Clin Endocrinol Metab 2008;93:4948-54.
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
DOI 10.1210/jc.81.4.1442
Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, et al. Demonstration by transfection studies that mutations in the adre-nocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab 1996;81:1442-8. (Pubitemid 26118574)
Adrenocorticotropin receptor gene mutations in familiar gluco-corticoid deficiency: Relationships with clinical features in four families
Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, et al. Adrenocorticotropin receptor gene mutations in familiar gluco-corticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metabol 1995;80:65-71.
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
DOI 10.1111/j.1365-2265.2006.02709.x
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, et al. Severe loss-of-function mutations in the adrenocorticotropin receptor (CTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol 2007;66:205-10. (Pubitemid 46096139)
