Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
Jayesh ShethSiddharth ShahChaitanya DatarKaveri BhattPooja RavalAadhira NairDeepika JainJhanvi ShahFrenny ShethHarsh ShethPublished in: BMC pediatrics (2023)
Overall, present study has added to the existing data on MSD from India. Based on the computational analysis, the novel variant c.860A > T identified in this study is likely to be associated with a milder phenotype and prolonged survival.