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 Chae

Published 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.

Keyphrases

young adults
gene expression
body mass index
diabetic retinopathy
weight gain
single cell