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Article

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

The Journal of clinical endocrinology and metabolism - 1 Sept 1999

Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke K Y, Dillon M J, Silve C, Jüppner H

Abstract excerpt

Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen's metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. Both mutations...

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Source

Identifiers

PMID: 10487664
DOI: 10.1210/jcem.84.9.6000

Genes

PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10487664-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.PMID 10487664Read ↗

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.Semantic proximity Read ↗

Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal ChondrodysplasiaSemantic proximity Read ↗

Constitutive Activation of the Cyclic Adenosine 3′,5′-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal ChondrodysplasiaSemantic proximity Read ↗

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt HypercalcemiaSemantic proximity Read ↗

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Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.Semantic proximity Read ↗

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