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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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Detalles Bibliográficos
Autores principales: Dias, Christel, Giordano, Mara, Frechette, Rosalie, Bellone, Simonetta, Polychronakos, Constantin, Legault, Laurent, Deal, Cheri L, Goodyer, Cynthia Gates
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661101/
https://www.ncbi.nlm.nih.gov/pubmed/28557176
http://dx.doi.org/10.1111/jcmm.13210