Abstract
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.
Original language | English (US) |
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Pages (from-to) | 303-305 |
Number of pages | 3 |
Journal | Pediatric Nephrology |
Volume | 20 |
Issue number | 3 SPEC. ISS. |
DOIs | |
State | Published - Mar 2005 |
Keywords
- GH
- Growth
- IGF
- STAT5b
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Nephrology