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Title: Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
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
Rights: openAccess
ISSN: 2472-1972
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. 12 de Octubre > Artículos

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