Article
[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jul 1998
Fukata J, Li C L, Saibara T, Onishi S
Abstract excerpt
Familial glucocorticoid deficiency (FGD) is an autosomal recessive syndrome with hereditary adrenocortical unresponsiveness to ACTH. After the cloning of ACTH receptor or melanocortin-2 receptor (MC-2R) cDNA, several kinds of mutations in the receptor genes have been reported. However, the apparently normal ACTH receptor gene in some affected children suggests that the etiology of FGD is heterogeneous. In this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.