Article
Growth hormone insensitivity resulting from post-GH receptor defects.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 2004
Rosenfeld Ron G, Kofoed Eric, Little Brian, Woods Katie, Buckway Caroline, Pratt Katherine, Hwa Vivian
Abstract excerpt
Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and gamma-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor...
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