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Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities

25 Nov 2025

Abstract excerpt

PURPOSE: To identify disease-causing gene variants in 114 probands with congenital cataract (CC), either isolated or accompanied by additional ocular abnormalities and multisystem disorders. METHODS: A total of 114 probands with CC who accept cataract surgery between 2021 and 2022 were enrolled. All probands and available family members underwent a comprehensive ophthalmologic examinations and received clinical...

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PMID: 41291698
DOI: 10.1186/s12920-025-02255-9

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