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Article

The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.

Journal of endocrinological investigation - 1 Sept 2000

Calvi L M, Schipani E

Abstract excerpt

JMC is a rare autosomal dominant form of short limb dwarfism characterized by asymptomatic hypercalcemia and skeletal deformities, despite low PTH and PTHrP levels. This rare disorder is likely to be caused by activating mutations in the PTH/PTHrP receptor leading to ligand-independent cAMP accum...

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Source

Identifiers

PMID: 11021773
DOI: 10.1007/BF03343773

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11021773-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.PMID 11021773Read ↗

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