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Article

A mutant PTH/PTHrP type I receptor in enchondromatosis.

Nature genetics - 1 Mar 2002

Hopyan Sevan, Gokgoz Nalan, Poon Raymond, Gensure Robert C, Yu Chunying, Cole William G, Bell Robert S, Jüppner Harald, Andrulis Irene L, Wunder Jay S, Alman Benjamin A

Abstract excerpt

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal involvement is variable in enchondromatosis and may include dysplasia that is not directly...

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Source

Identifiers

PMID: 11850620
DOI: 10.1038/ng844

Genes

IHH
PTH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A mutant PTH/PTHrP type I receptor in enchondromatosis.PMID 11850620Read ↗

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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150CSemantic proximity Read ↗

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Human diseases caused by homozygous PTH1R mutations.Semantic proximity Read ↗

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The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.Semantic proximity Read ↗

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