Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

CONTEXT: Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. OBJECTIVES: Assess the natura...

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Bibliographic Details
Published in:J Clin Endocrinol Metab
Main Authors: Saito, Hiroshi, Noda, Hiroshi, Gatault, Philippe, Bockenhauer, Detlef, Loke, Kah Yin, Hiort, Olaf, Silve, Caroline, Sharwood, Erin, Martin, Regina Matsunaga, Dillon, Michael J, Gillis, David, Harris, Mark, Rao, Sudhaker D, Pauli, Richard M, Gardella, Thomas J, Jüppner, Harald
Format: Artigo
Language:Inglês
Published: Endocrine Society 2018
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Clinical Research Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6486824/
https://ncbi.nlm.nih.gov/pubmed/29788189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-00332
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