Article
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.
The Journal of clinical endocrinology and metabolism - 1 Sept 1999
Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke K Y, Dillon M J, Silve C, Jüppner H
Abstract excerpt
Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen's metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. Both mutations, H223R and T410P, resulted in constitutive activation of the cAMP signaling pathway and provided a plausible...
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