Genetic & Genomic MedicinemedRxivPreprint
ABCA4-Related Retinopathies in Lebanon: a novel mutation and significant heterogeneity
Mariam Ibrahim, Lama Jaffal, Alexandre Assi…·Saïd El Shamieh
This study identifies a novel ABCA4 mutation and demonstrates significant genetic and phenotypic diversity in ABCA4 retinopathies among Lebanese families.
DOI 10.1101/2023.11.09.23298241