Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
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DOI: 10.1530/eje-18-0042
Abstract: BACKGROUND Patients with homozygous intronic pseudoexon GH receptor (GHR) mutations (6Ψ) have growth hormone insensitivity (GHI) (growth failure, IGF1 deficiency and normal/elevated serum GH). We report 9 patients in addition to previously described 11 GHR… read more here.
Keywords: homozygous intronic; phenotypic; year; patients homozygous ... See more keywords