Article
Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.
The Journal of clinical endocrinology and metabolism - 1 Feb 1997
Sobrier M L, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S
Abstract excerpt
The GH receptor (GHR) is a member of the cytokine receptor superfamily; GH binding protein is the solubilized extracellular domain of the GHR. Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appearance of severe GH deficiency despite elevated circulating GH levels. In 13 unrelated patients with undetectable levels...
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