ABCA4-Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Saïd El Shamieh
This study identifies a novel ABCA4 mutation and demonstrates significant genetic and phenotypic diversity in ABCA4 retinopathies among Lebanese families.
medRxiv · Nov 9, 2023 · PreprintGenetic & Genomic Medicine