ea0008p83 | Steroids | SFE2004
Metherell LA
, Chapple JP
, Cooray S
, Becker C
, Begeot M
, Naville D
, Nurnberg P
, Huebner A
, Cheetham ME
, Clark AJL
Familial Glucocorticoid Deficiency (FGD) [OMIM #202200] is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex to stimulate glucocorticoid production. It has previously been linked to mutations in the ACTH receptor (ACTHR) [FGD type 1] and a locus on chromosome 8q, but 70% of cases have no known cause. The aim of this study was to identify additional loci and genes for FGD using a linkage mapping strategy....