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

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. Howe...

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Publicat a:J Cell Mol Med
Autors principals: Dias, Christel, Giordano, Mara, Frechette, Rosalie, Bellone, Simonetta, Polychronakos, Constantin, Legault, Laurent, Deal, Cheri L, Goodyer, Cynthia Gates
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5661101/
https://ncbi.nlm.nih.gov/pubmed/28557176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13210
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