Publications by authors named "Maria Laura La Torre"
Ital J Pediatr
August 2022
Article Synopsis
- Congenital ichthyosis (CI) is a rare group of genetic disorders causing dry, scaly skin and other complications, with over 50 genes linked to different types.
- This study reports three cases of Italian newborns with varying severities of CI, each showing novel mutations in genes related to their conditions.
- The findings emphasize the importance of genomic analysis for tailored patient management, enhancing knowledge of CI while guiding effective approaches and providing reassurance to families.
