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Growth Hormone Insensitivity Associated with a STAT5b Mutation
Open accessAbstract
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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Shuai, K., Horvath, C. M., Huang, L. H. T., Qureshi, S. A., Cowburn, D., & Darnell, J. E. (1994) · Cell · doi:10.1016/0092-8674(94)90357-3 · Cited by 807
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Metadata
- Authors
- Kofoed, E. M., Hwa, V., Little, B., Woods, K. A., Buckway, C. K., Tsubaki, J., Pratt, K. L., Bezrodnik, L., Jasper, H., Tepper, A., Heinrich, J. J., & Rosenfeld, R. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2003-09-18
- Volume
- 349
- Issue
- 12
- Pages
- 1139-1147
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1984828633
- Cited by
- 525
- References
- 1
- FWCI
- 17.66
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Kofoed, E. M., Hwa, V., Little, B., Woods, K. A., Buckway, C. K., Tsubaki, J., Pratt, K. L., Bezrodnik, L., Jasper, H., Tepper, A., Heinrich, J. J., & Rosenfeld, R. G. (2003). Growth Hormone Insensitivity Associated with a STAT5b Mutation. New England Journal of Medicine. https://doi.org/10.1056/nejmoa022926
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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