Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

This publication has 7 references indexed in Scilit:

• Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
  Nature, 1992
• The Cloning of a Family of Genes That Encode the Melanocortin Receptors
  Science, 1992
• Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa
  New England Journal of Medicine, 1990
• FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION
  The Lancet, 1978
• Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis.
  Archives of Disease in Childhood, 1975
• The Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Cases
  Pediatric Research, 1968
• Familial Addison's Disease
  A.M.A. Journal of Diseases of Children, 1959