Publications by authors named "Sofia Itskov"
Curr Issues Mol Biol
March 2024
Article Synopsis
- Bardet-Biedl syndrome (BBS) is a genetic condition that leads to retinal degeneration along with issues like obesity, intellectual disability, and kidney disease, but can also present milder symptoms in some patients.
- A case study of an Israeli patient with a mild form of retinal disease showed additional issues like epilepsy and dental problems, linking them to a specific genetic variant in a gene that's critical for vision.
- The study suggests that this genetic variant may cause a less severe form of BBS, indicating that genetic testing for this variant should be considered not just for BBS patients, but also for those with milder retinal diseases.
