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Article

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.

Journal of cellular and molecular medicine - 1 Nov 2017

Dias Christel, Giordano Mara, Frechette Rosalie, Bellone Simonetta, Polychronakos Constantin, Legault Laurent, Deal Cheri L, Goodyer Cynthia Gates

Abstract excerpt

GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to a dysfunctional receptor protein. However, children with idiopathic short stature (ISS) show growth impairment without GH or GHR defects. We hypothesized...

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Source

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Identifiers

PMID: 28557176
DOI: 10.1111/jcmm.13210
PMCID: PMC5661101

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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