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Previous Volume 349:1139-1147 September 18, 2003 Number 12 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text Supplementary Material Perspective by Eugster, E. A. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

The syndrome of growth hormone insensitivity is characterized by phenotypic features consistent with the presence of a growth hormone deficiency, but with normal-to-elevated circulating concentrations of growth hormone and resistance to exogenous growth hormone therapy.¹ Originally described by Laron and colleagues,² the syndrome, it has become increasingly apparent, involves considerable phenotypic heterogeneity, reflecting, at least in part, the complexity of the growth hormone signaling cascade. The majority of patients described to date have low serum concentrations of growth hormone–binding protein, the extracellular domain of the growth hormone receptor, as a result of mutations or deletions that affect the growth hormone–binding . . . [Full Text of this Article]

Case Report

Methods

Results

Analysis of the Growth Hormone Receptor Gene and Protein

Expression of IGF-I and IGFBP-3 Messenger RNA

GHR Signal-Transduction Patterns

Identification of a Missense Mutation in the SH2 Domain of STAT5b

Stability and Activity of Mutant STAT5b

Discussion

Source Information

From the Department of Pediatrics, Oregon Health and Science University, Portland (E.M.K., V.H., B.L., K.A.W., C.K.B., J.T., K.L.P., R.G.R.); the Departments of Endocrinology (L.B., H.J., J.J.H.) and Pulmonology (A.T.), Hospital General de Niños Ricardo Gutiérrez de Buenos Aires, Buenos Aires, Argentina; and the Lucile Packard Foundation for Children's Health, Palo Alto, Calif. (R.G.R.).

Mr. Kofoed and Dr. Hwa contributed equally to the article.

Address reprint requests to Dr. Rosenfeld at the Lucile Packard Foundation for Children's Health, 770 Welch Rd., Suite 350, Palo Alto, CA 94304, or at ron.rosenfeld@lpfch.org.

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