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

Marco LombardoUmberto CamellinRaffaella GioiaSebastiano SerraoVincenzo ScorciaAnna Maria RoszkowskaGiuseppe LombardoMatteo BertelliMaria Chiara MedoriDanilo Alunni FegatelliAnnarita VestriRita MencucciDomenico Schiano Lomoriello

Published in: Eye (London, England) (2024)

Targeted NGS research provided new insights into the causative effect of candidate genes in the clinical phenotype of keratoconus. Filaggrin mutations were found to represent a genetic risk factor for development of progressive disease in Italy.

Keyphrases

cancer therapy
copy number
multiple sclerosis
genome wide
atopic dermatitis
circulating tumor cells