Growth hormone insensitivity associated with a STAT5b mutation.
作者： Eric M. Kofoed , Vivian Hwa , Brian Little , Katie A. Woods , Caroline K. Buckway
DOI: 10.1056/NEJMOA022926
关键词:
摘要: This report documents that the syndrome of growth hormone insensitivity (severe short stature, increased secretion hormone, but low serum concentrations insulin-like factor I [IGF-I] and IGF–binding protein 3) in a teenage girl was due to homozygous missense mutation gene for STAT5b, an essential component actions as well many other cytokine-induced functions.
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