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Article

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

Journal of clinical research in pediatric endocrinology - 1 Jan 2014

Ekbote Alka V, Danda Sumita, Zankl Andreas, Mandal Kausik, Maguire Tina, Ungerer Kobus

Abstract excerpt

Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric NAO share autosomal recessive inheritance. The common presenting symptomatology includes progressive osteolysis chiefly affecting the carpal, tarsal and interphalangeal joints. Here, we report a patient with Torg syndrome. Torg syndrome is caused by...

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Identifiers

PMID: 24637309
DOI: 10.4274/Jcrpe.1166
PMCID: PMC3986738

Genes

MMP2

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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Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.PMID 24637309Read ↗

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Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.Semantic proximity Read ↗

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