Article
Growth hormone receptor mutations in children with idiopathic short stature.
The Journal of clinical endocrinology and metabolism - 1 Nov 1998
Sanchez J E, Perera E, Baumbach L, Cleveland W W
Abstract excerpt
Homozygous or compound heterozygous mutations in the GH receptor (GHR) gene result in GH insensitivity syndrome. Previous reports have shown that some heterozygous mutations may induce a partial insensitivity to GH, but others appear to have limited effect on growth. To investigate further these...
Topics
- Adolescent
- Age Determination by Skeleton
- Child
- Child, Preschool
- Dwarfism
- Exons
- Female
- Heterozygote
- Humans
- Male
- Mutation
- Polymorphism, Genetic
- Receptors, Somatotropin