Molecular defects in the growth hormone-IGF axis
Symposium on Growth and Its Disorders
Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.
Key wordsGrowth hormone Genetic defects Mutations
Growth hormone deficiency
Growth hormone receptor
Growth hormone releasing hormone
Growth hormone binding protein
paired-like homeobox gene expressed in embryonic stem cells
Janus kinase 2
LIM-type homeodomain protein
prophet of pit 1
Pit-1, Oct-1; Oct-2; Unc-86
Signal transducer and activator of transcription
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