Article
[Growth hormone receptor and dwarfism].
La Revue du praticien - 15 May 1994
Postel-Vinay M C
Abstract excerpt
Laron syndrome is a rare autosomal recessive disease characterized by extreme resistance to growth hormone (GH). A GH receptor defect, which was hypothesized as the cause of the disease, was demonstrated after the cloning of the GH receptor cDNA. Several abnormalities of the GH receptor gene have been identified in the patients, demonstrating the genetic heterogeneity of the disease. Most of the identified...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Dwarfism
- Humans
- Mutation
- Receptors, Somatotropin