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Article

MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family.

European journal of medical genetics - 1 May 2026

Thunström Sofia, Antonsson Pavel, Stenberg Simon, Aspholm Emelie E, Swolin Eide Diana

Abstract excerpt

BACKGROUND: Metaphyseal anadysplasia 1, which includes Spondyloepimetaphyseal dysplasia Missouri type, is a rare autosomal dominant skeletal dysplasia characterized by short stature, mild limb deformities, and transient metaphyseal irregularities that typically resolve with age. The condition is caused by heterozygous missense variants in the MMP13 gene, encoding matrix metalloproteinase 13, a key enzyme in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42069302
DOI: 10.1016/j.ejmg.2026.105080

Genes

MMP13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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