Jansen Metaphyseal Chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia.
Nampoothiri S, Fernández-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, Jüppner H
Jansen Metaphyseal Chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia.
J Clin Endocrinol Metab. 2016;:jc20162054 – PMID: 27410178 – PMCID: PMC5095231