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 her parents and brother. Her parents and brother were normal in their height. Amplification with PCR and direct...
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