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Article

Czech dysplasia metatarsal type: another type II collagen disorder.

European journal of human genetics : EJHG - 1 Dec 2007

Hoornaert Kristien P, Marik Ivo, Kozlowski Kazimierz, Cole Trevor, Le Merrer Martine, Leroy Jules G, Coucke Paul J, Sillence David, Mortier Geert R

Abstract excerpt

Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Similarities between individuals with this dysplasia and patients with an R275C mutation in the COL2A1 gene, prompted us to analyze the COL2A1 gene in the original families reported...

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Source

Identifiers

PMID: 17726487
DOI: 10.1038/sj.ejhg.5201913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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