Associated Papers
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Growth Hormone Receptor Mutations Related to Individual Dwarfism.
Lin S et al.
International Journal of Molecular Sciences, 2018
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
Diniz ET et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Gastier JM et al.
Human Mutation, 2000
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.
Wojcik J et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Select a paper to view details