Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
- Resource Type
- Article
- Source
- BMC Pediatrics; 3/24/2023, Vol. 23 Issue 1, p1-7, 7p
- Subject
MISSENSE mutation SULFATASES GENETIC variation FACIAL abnormalities CORPUS callosum GLYCOGEN storage disease type II - Language
- ISSN
- 14712431