Article
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
The Journal of clinical endocrinology and metabolism - 1 Mar 1998
Fischer J A, Egert F, Werder E, Born W
Abstract excerpt
Pseudohypoparathyroidism type Ia (PSP) is a disorder characterized by Albright's osteodystrophy, secondary hyperparathyroidism, lowered Gs activity, and resistance of the urinary cAMP excretion to exogenous PTH. The patients had raised basal serum levels of TSH and/or excessive TSH response to TR...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Child
- Child, Preschool
- Female
- GTP-Binding Proteins
- Gene Deletion
- Humans
- Infant
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism