[PTH/PTHrP receptor and pseudohypoparathyroidism].

Abstract excerpt

The PTH/PTHrP receptor, a G protein coupled receptor, mediates the actions of PTH and PTHrP. Homozygous inactivating mutations in this receptor cause a rare disorder called Blomstrand chondrodystrophy. Since this disease is lethal in utero or perinatal period, the existence of PTH resistance has not been verified. Inactivating mutations in PTH/PTHrP receptor have not been found in the patients with...

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