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Both GH releasing- and orexigenic properties of the gut-to-brain hormone ghrelin are mediated by the GH secretagogue receptor (GHSR). Recently in several patients, a missense mutation (p.A204E) resulting in a complete loss of GHSR constitutive activity has been implicated in short stature with dominant transmission.

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor