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Francesco Prevedello

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Open access Oct 2026

Evaluating the Role of MC1R Variants in Cutaneous and Ocular Phenotypes: A Candidate TYR–MC1R Genetic Interaction in Oculocutaneous Disorders

Background: The melanocortin-1 receptor (MC1R) gene is a major determinant of skin and hair color. Although several MC1R variants increase the risk of skin tumors regardless of pigmentation, their role as genetic modifiers in ocular diseases remains poorly understood. Methods: Here, we analyzed a cohort of 48 Caucasian...

E. Di Iorio, Francesco Parmeggiani, Antonella De Nardi et al. · 0 citations

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