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Article

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

European journal of pediatrics - 1 Mar 2010

Gok Faysal, Crettol Lauréane Mittaz, Alanay Yasemin, Hacihamdioglu Bulent, Kocaoglu Murat, Bonafe Luisa, Ozen Seza

Abstract excerpt

The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. They are characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a...

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PMID: 19653001
DOI: 10.1007/s00431-009-1028-7

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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.

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