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Article

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.

Journal francais d'ophtalmologie - 1 Oct 2024

Vrabič N, Fakin A, Tekavčič Pompe M

Abstract excerpt

Pathogenic variants in the CEP290 gene may result in a broad spectrum of diseases, ranging from lethal neonatal syndromes to isolated retinopathy. A detailed review of the clinical spectrum with the incidence of affected extraocular systems has not yet been published. A review of published papers was carried out to provide a comprehensive report on systemic signs and symptoms associated with CEP290 ciliopathies...

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Identifiers

PMID: 39213781
DOI: 10.1016/j.jfo.2024.104232

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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