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Article

Structural abnormalities of the cornea and lid resulting from collagen V mutations.

Investigative ophthalmology & visual science - 1 Feb 2006

Segev Fani, Héon Elise, Cole William G, Wenstrup Richard J, Young Felix, Slomovic Allan R, Rootman David S, Whitaker-Menezes Diana, Chervoneva Inna, Birk David E

Abstract excerpt

PURPOSE: Type V collagen forms heterotypic fibrils with type I collagen and accounts for 10% to 20% of corneal collagen. The purpose of this study was to define the ocular phenotype resulting from mutations in the type V collagen genes COL5A1 and COL5A2 and to study the pathogenesis of anomalies in a Col5a1-deficient mouse. METHODS: Seven patients with classic Ehlers-Danlos syndrome (EDS) due to COL5A1...

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Identifiers

PMID: 16431952
DOI: 10.1167/iovs.05-0771

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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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