Article
Short stature by mutant growth hormones.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 1999
Takahashi Y, Chihara K
Abstract excerpt
Although the presence of a short stature caused by biologically inactive growth hormone (GH) has been presumed by many case reports, its molecular basis has been unclear until recently. Short stature with low concentrations of insulin-like growth factor-I (IGF-I), despite normal to high GH concentration, suggests impaired GH effect. Recently, we have reported two unique point mutations in the GH1 gene in short...
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