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Article

Czech dysplasia: report of a large family and further delineation of the phenotype.

American journal of medical genetics. Part A - 15 Jul 2008

Tzschach Andreas, Tinschert Sigrid, Kaminsky Elke, Lusga Eugen, Mundlos Stefan, Graul-Neumann Luitgard M

Abstract excerpt

Czech dysplasia (OMIM 609162) is a recently delineated COL2A1 disorder characterized by early-onset progressive pseudorheumatoid arthritis, platyspondyly, short third and fourth metatarsals, normal height, and the absence of ophthalmological problems or cleft palate. Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. We report on a large...

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Source

Identifiers

PMID: 18553548
DOI: 10.1002/ajmg.a.32389

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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