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Article

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

European journal of human genetics : EJHG - 1 May 2009

Tuysuz Beyhan, Mosig Rebecca, Altun Gürkan, Sancak Selim, Glucksman Marc J, Martignetti John A

Abstract excerpt

Multicentric osteolysis with nodulosis and arthropathy (MONA, NAO (OMIM no. 605156)) is an autosomal recessive member of the 'vanishing bone' syndromes and is notable for the extent of carpal and tarsal osteolysis and interphalangeal joint erosions, facial dysmorphia, and the presence of fibrocol...

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Source

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Identifiers

PMID: 18985071
DOI: 10.1038/ejhg.2008.204
PMCID: PMC2721823

Genes

MMP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18985071-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.PMID 18985071Read ↗

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