Identification of the first patient with a confirmed mutation of the JAK-STAT system
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- Rosenfeld, R.G., Kofoed, E., Buckway, C. et al. Pediatr Nephrol (2005) 20: 303. doi:10.1007/s00467-004-1678-7
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Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We describe the first patient reported with a mutation in the gene for STAT5b, a protein critical for the transcriptional regulation of insulin-like growth factor-I.