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Article

Clinical features of the congenital vitreoretinopathies.

Eye (London, England) - 1 Oct 2008

Edwards A O

Abstract excerpt

The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1...

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Source

Identifiers

PMID: 18309337
DOI: 10.1038/eye.2008.38

Genes

KCNJ13

Provenance

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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