Growth Hormone Insensitivity Associated with a<i>STAT5b</i>Mutation
Eric M. Kofoed(Oregon Health & Science University), Vivian Hwa(Hospital General de Niños Ricardo Gutierrez), Brian M. Little(Hospital General de Niños Ricardo Gutierrez), Katie A. Woods(Hospital General de Niños Ricardo Gutierrez), Caroline Buckway(Hospital General de Niños Ricardo Gutierrez), Junko Tsubaki(Hospital General de Niños Ricardo Gutierrez), Katherine L. Pratt(Hospital General de Niños Ricardo Gutierrez), Liliana Bezrodnik(Hospital General de Niños Ricardo Gutierrez), Héctor Jasper(Hospital General de Niños Ricardo Gutierrez), Alejandro Tepper(Hospital General de Niños Ricardo Gutierrez), Juan J. Heinrich(Hospital General de Niños Ricardo Gutierrez), Ron G. Rosenfeld(Lucile Packard Foundation for Childrens Health)
Cited by 524Open Access
Abstract
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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