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Article

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

American journal of medical genetics. Part A - 15 Jan 2007

Walter Kerstin, Tansek Mojca, Tobias Edward S, Ikegawa Shiro, Coucke Paul, Hyland James, Mortier Geert, Iwaya Tsutomu, Nishimura Gen, Superti-Furga Andrea, Unger Sheila

Abstract excerpt

Skeletal dysplasias induced by mutations in the collagen 2 gene (the so-called "type 2 collagenopathies") form a wide spectrum in severity and are distinguished by subtle clinical and radiographic differential signs. The unifying features are predominant involvement of the vertebral bodies and the epiphyses of the long bones ("spondylo-epiphyseal" pattern). A mild degree of metaphyseal dysplasia can be seen in...

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Identifiers

PMID: 17163530
DOI: 10.1002/ajmg.a.31516

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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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