[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency].

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 appare...

Topics

Glucocorticoids
Humans
Infant
Infant, Newborn
Mutation
Receptors, Corticotropin
Signal Transduction

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