Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.12530/41837
Title: | Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency. | |
Authors: | ||
Keywords: | GH/IGF-I therapy dominant-negative GHR mutations | |
Issue Date: | 1-Apr-2017 | |
Citation: | J Endocr Soc.2017 Apr;(1)4:345-358 | |
Abstract: | Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-like growth factor (IGF)-I deficiency. We report three families with dominant-negative heterozygous mutations in the intracellular domain of the GHR causing a nonclassical GHI phenotype. | |
PMID: | 29188236 | |
URI: | https://hdl.handle.net/20.500.12530/41837 | |
Rights: | openAccess | |
ISSN: | 2472-1972 | |
Appears in Collections: | Fundaciones e Institutos de Investigación > IIS H. U. 12 de Octubre > Artículos | |
Files in This Item:
File | Description | Size | Format | |
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PMC5686656.pdf | 1.75 MB | Adobe PDF | View/Open |
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