Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case
Mol Genet Genomic Med. 2025 Feb;13(2):e70070. doi: 10.1002/mgg3.70070. ABSTRACT BACKGROUND: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a …