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Targeted next-generation sequencing analysis in Italian patients with keratoconus.

Eye (London, England) - 1 Sept 2024

Lombardo Marco, Camellin Umberto, Gioia Raffaella, Serrao Sebastiano, Scorcia Vincenzo, Roszkowska Anna Maria, Lombardo Giuseppe, Bertelli Matteo, Medori Maria Chiara, Alunni Fegatelli Danilo, Vestri Annarita, Mencucci Rita, Schiano Lomoriello Domenico

Abstract excerpt

OBJECTIVE: To report variants in 26 candidate genes and describe the clinical features of Italian patients with keratoconus (KC). SUBJECTS/METHODS: Sixty-four patients with a confirmed diagnosis of KC were enrolled in this genetic association study. Patients were classified into two study groups according to whether they had a confirmed diagnosis of progressive or stable KC. A purpose-developed Next Generation...

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PMID: 38684849
DOI: 10.1038/s41433-024-03090-5
PMCID: PMC11383948

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