Article
Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
The Journal of clinical endocrinology and metabolism - 1 Nov 1997
Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K
Abstract excerpt
A girl with severe growth retardation had the clinical features of Laron syndrome. Her serum insulin-like growth factor-I level was completely unresponsive to exogenous GH administration. The serum GH-binding protein (GHBP) level was below the detectable limit in the patient, but it was normal in...
Topics
- Adolescent
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA, Complementary
- Drug Resistance
- Exons
- Female
- Gene Deletion
- Growth Disorders
- Heterozygote
- Human Growth Hormone
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Receptors, Somatotropin