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01-03-2010 | Short Report

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

Authors: Faysal Gok, Lauréane Mittaz Crettol, Yasemin Alanay, Bulent Hacıhamdioglu, Murat Kocaoglu, Luisa Bonafe, Seza Ozen

Published in: European Journal of Pediatrics | Issue 3/2010

Abstract

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 novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.

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Title: Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
Authors: Faysal Gok
Lauréane Mittaz Crettol
Yasemin Alanay
Bulent Hacıhamdioglu
Murat Kocaoglu
Luisa Bonafe
Seza Ozen
Publication date: 01-03-2010
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-009-1028-7

2024 ASCO Annual Meeting

Springer Medicine

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

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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