Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.

@article{Weber1994MutationsOT,
  title={Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency.},
  author={Astrid Weber and Adrian J. Clark},
  journal={Human molecular genetics},
  year={1994},
  volume={3 4},
  pages={585-8}
}
Familial glucocorticoid deficiency (FGD) is an autosomal recessive syndrome of failure of adrenal cortisol responsiveness to adrenocorticotropin (ACTH). Defects in the ACTH receptor have been suggested as a possible cause, and we have previously reported a point mutation in this gene in a family with FGD. Investigation of seven additional families has revealed a number of novel mutations in the ACTH receptor in some, but a normal gene in others suggesting that the aetiology of FGD may be… CONTINUE READING

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