Article
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
The Journal of clinical endocrinology and metabolism - 1 Jul 2004
Bastepe Murat, Raas-Rothschild Annick, Silver Justin, Weissman Irit, Wientroub Shlomo, Jüppner Harald, Gillis David
Abstract excerpt
A novel heterozygous PTH/PTHrP receptor missense mutation (T410R) was identified in a male and his two sons who are all affected by a less severe form of Jansen's metaphyseal chondrodysplasia (JMC). JMC is a rare disorder that is typically characterized by severe growth plate abnormalities that lead to short-limbed dwarfism. Furthermore, affected individuals usually show significant hypercalcemia, despite normal...
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