Associated Papers
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.
Giannakopoulos A et al.
Hormone Research in Paediatrics, 2024
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.
Domené S et al.
Cells, 2021
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.
Li R et al.
Frontiers in Endocrinology, 2021
33912130 (PubMed )
Supplement: Table_1.docx
Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
Rughani A et al.
Clinical Endocrinology, 2020
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Storr HL et al.
Endocrine Reviews, 2019
Growth Hormone Receptor Mutations Related to Individual Dwarfism.
Lin S et al.
International Journal of Molecular Sciences, 2018
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
Vairamani K et al.
Journal of the Endocrine Society, 2017
A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.
Takagi M et al.
Clinical Endocrinology, 2016
The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
Derr MA et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
Aisenberg J et al.
Hormone Research in Paediatrics, 2010
[Hypocomplementemia resulting from heterozygous C2 deficiency, polyarthritis and urticaria - comparison to Mac Duffie's syndrome].
Peltier AP et al.
La Nouvelle Presse Medicale, 1980
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