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Clinical, radiographic and molecular characterization of two unrelated families with multicentric os...

Clinical, radiographic and molecular characterization of two unrelated families with multicentric os...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a34734d47874464f97360383e2bdca7e

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

About this item

Full title

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

Publisher

England: BioMed Central Ltd

Journal title

BMC musculoskeletal disorders, 2023-09, Vol.24 (1), p.735-11, Article 735

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. MONA is caused by MMP2 deficiency. Here we report clinical and molecular analyses of four patients in two families from Pakistan and Finland.
Clinic...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_a34734d47874464f97360383e2bdca7e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a34734d47874464f97360383e2bdca7e

Other Identifiers

ISSN

1471-2474

E-ISSN

1471-2474

DOI

10.1186/s12891-023-06856-2

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