Kowarski syndrome is characterized by bioinactive growth hormone caused by GH1 mutations. Supplementation is effective in these patients.
Takahashi Y et al. (1996) Brief report: short stature caused by a mutant growth hormone.[^]
Besson A et al. (2005) Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).[^]
Takahashi Y et al. (1997) Biologically inactive growth hormone caused by an amino acid substitution.[^]
Kowarski AA et al. (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH.[^]
Valenta LJ et al. (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers.[^]
Bright GM et al. (1983) Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone.[^]