Article
Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).
The Journal of clinical endocrinology and metabolism - 1 Oct 1998
Naville D, Weber A, Genin E, Durand P, Clark A J, Bégeot M
Abstract excerpt
Several mutations in the coding exon of the ACTH receptor (MC2R) gene have been reported in cases of familial glucocorticoid deficiency or FGD. However, many patients with a similar syndrome do not present any mutation in the coding region of this gene. This is the case in 11 families we have inv...
Topics
- Adrenocorticotropic Hormone
- Chromosome Mapping
- Drug Resistance
- Exons
- Female
- Genetic Linkage
- Glucocorticoids
- Hormones
- Humans
- Male
- Mutation
- Pedigree
- Receptors, Corticotropin