Article
Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature.
The Journal of pediatrics - 1 Jul 1997
Goddard A D, Dowd P, Chernausek S, Geffner M, Gertner J, Hintz R, Hopwood N, Kaplan S, Plotnick L, Rogol A, Rosenfield R, Saenger P, Mauras N, Hershkopf R, Angulo M, Attie K
Abstract excerpt
Mutations in the GHR locus may play a role in the cause of idiopathic short stature (ISS) by impairing growth-hormone (GH) receptor (GHR) function. At one extreme, mutations that nullify the function of the GH receptor are linked to complete GH insensitivity syndrome, or Laron syndrome, and we hypothesized that less-disruptive mutations could contribute to partial GH insensitivity syndrome. Low levels of GH...
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