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Article

Ophthalmic manifestations of Czech dysplasia.

American journal of medical genetics. Part A - 1 Apr 2024

Soh Zack, Martin Howard, Richards Allan J, Suri Mohnish, Snead Martin P

Abstract excerpt

Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early-onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even...

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Identifiers

PMID: 37982325
DOI: 10.1002/ajmg.a.63480

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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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