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Article

Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2007

Zankl Andreas, Pachman Lauren, Poznanski Andrew, Bonafé Luisa, Wang Fengqiang, Shusterman Yelena, Fishman David A, Superti-Furga Andrea

Abstract excerpt

UNLABELLED: Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. Ou...

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Source

Identifiers

PMID: 17059372
DOI: 10.1359/jbmr.061013

Genes

MMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17059372-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.PMID 17059372Read ↗

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