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Article

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

The Journal of clinical endocrinology and metabolism - 1 Jul 2018

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

Abstract excerpt

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 natural history of clinical and laboratory findings in 24 patients with JMC and characterize the disease-causing mutant...

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Source

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Identifiers

PMID: 29788189
DOI: 10.1210/jc.2018-00332
PMCID: PMC6486824

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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