Open access
Oct 2026
Evaluating the Role of MC1R Variants in Cutaneous and Ocular Phenotypes: A Candidate TYR–MC1R Genetic Interaction in Oculocutaneous Disorders
The findings support a potential role for MC1R as a candidate modifier interacting with TYR in neuroretinal development and incorporate MC1R screening in patients with unresolved foveal hypoplasia to help clarify complex oligogenic mechanisms and optimize phenotypic classification.
E. Di Iorio, Francesco Parmeggiani, Antonella De Nardi et al.
· Genes · 0 citations