Article
Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.
The New England journal of medicine - 26 Oct 1995
Goddard A D, Covello R, Luoh S M, Clackson T, Attie K M, Gesundheit N, Rundle A C, Wells J A, Carlsson L M
Abstract excerpt
BACKGROUND: Short stature in children who are not deficient in growth hormone (GH) is probably caused by a variety of defects. Some children with idiopathic short stature have low serum concentrations of GH-binding protein, which is derived from the GH receptor. The possibility that low serum con...
Topics
- Adolescent
- Carrier Proteins
- Child
- Child, Preschool
- Exons
- Female
- Growth Disorders
- Growth Hormone
- Humans
- Insulin-Like Growth Factor I
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Protein Structure, Tertiary