Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.V400del1
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MMP2

NM_004530.6:p.V400del1

Associated Papers

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.

Ahmad S et al.

Bone Reports, 2024

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.

Ishaq T et al.

Bmc Musculoskeletal Disorders, 2023

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Pichler K et al.

Scientific Reports, 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2016

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

Azzollini J et al.

Journal of Human Genetics, 2014

Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.

Castberg FC et al.

European Journal of Pediatrics, 2013

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

Zankl A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007

A novel homozygous MMP2 mutation in a family with Winchester syndrome.

Rouzier C et al.

Clinical Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."