Growth Hormone (GH) Insensitivity Syndrome with High Serum GH-Binding Protein Levels Caused by a Heterozygous Splice Site Mutation of the GH Receptor Gene Producing a Lack of Intracellular Domain¹

Abstract excerpt

Most of the GH receptor (GHR) gene abnormalities causing GH insensitivity syndrome (GHIS) are located in the region coding the extracellular domain, and serum GH-binding protein (GHBP) levels, determined by ligand-mediated immunofunctional assay, are low in most of the patients with GHIS. We present here a heterozygous point mutation of the donor splice site in intron 9 of the GHR gene in two Japanese siblings...

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