Growth hormone insensitivity associated with a STAT5b mutation
Growth hormone insensitivity associated with a STAT5b mutation
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DOI：
10.1056/nejmoa022926
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发表时间：
2003-09-18
影响因子：
158.5
通讯作者：
Rosenfeld, RG
中科院分区：
文献类型：
--
作者：
Kofoed, EM;Hwa, V;Rosenfeld, RG
该报告记录了一名少女的生长激素不敏感综合征（身材严重矮小，生长激素分泌增加，但胰岛素样生长因子 I [IGF-I] 和 IGF 结合蛋白 3 的血清浓度低）是由于 STAT5b 基因的纯合错义突变所致，STAT5b 是生长激素作用的重要组成部分，以及许多其他基因。 细胞因子诱导的功能。
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.