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 Sheth

Published 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.

Keyphrases

gene expression
machine learning
genome wide
big data
autism spectrum disorder
artificial intelligence