Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Ji Hong ParkJung Min KoMin Sun KimMan Jin KimMoon-Woo SeongTaekyeong YooByung Chan LimJong-Hee ChaePublished in: Molecular genetics & genomic medicine (2021)
We presented three Korean children, who were recently diagnosed with infantile-type TSDvia enzyme assay and genetic analysis. Furthermore, results showed that fundus examination can be helpful for early diagnosis of children with neurodevelopmental regression.