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This report documents that the syndrome of growth hormone insensitivity (severe short stature, increased secretion of growth hormone, but low serum concentrations of insulin-like growth factor I [IGF-I] and IGF–binding protein 3) in a teenage girl was due to a homozygous missense mutation in the gene for STAT5b, an essential component of the actions of growth hormone, as well as many other cytokine-induced functions.
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Kofoed et al. (2003) studied this question.
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