Article
The molecular genetics of growth hormone deficiency.
Human genetics - 1 Sept 1998
Procter A M, Phillips J A, Cooper D N
Abstract excerpt
Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth...
Topics
- Base Sequence
- Disease Models, Animal
- Genetic Diseases, Inborn
- Genotype
- Human Growth Hormone
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Receptors, Neuropeptide
- Receptors, Pituitary Hormone-Regulating Hormone