Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia

CONTEXT: Jansen's metaphyseal chondrodysplasia (JMC) is a rare skeletal dysplasia characterized by abnormal endochondral bone formation and typically severe hypercalcemia despite normal/low levels of PTH. Five different heterozygous activating PTH/PTHrP receptor (PTH1R) mutations that change on...

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Bibliografske podrobnosti
izdano v:J Clin Endocrinol Metab
Main Authors: Nampoothiri, Sheela, Fernández-Rebollo, Eduardo, Yesodharan, Dhanya, Gardella, Thomas J., Rush, Eric T., Langman, Craig B., Jüppner, Harald
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2016
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5095231/
https://ncbi.nlm.nih.gov/pubmed/27410178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-2054
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