Article
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Jun 2016
Castinetti F, Daly A F, Stratakis C A, Caberg J-H, Castermans E, Trivellin G, Rostomyan L, Saveanu A, Jullien N, Reynaud R, Barlier A, Bours V, Brue T, Beckers A
Abstract excerpt
Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL adenomas and hyperplasia. The microduplication includes GPR101, which is upregulated in patients' tumor tissue. The GPR101 gene codes for an orphan G protein coupled receptor that is normally highly expressed in the...
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