Synopsis of recent research by authors named "Karima Rafaat"
- Karima Rafaat conducted research on Sjögren-Larsson syndrome (SLS), a neurocutaneous disorder that presents with symptoms such as congenital ichthyosis, spastic diplegia, and intellectual disability, emphasizing its genetic basis tied to mutations in the ALDH3A2 gene.
- The study presented in her 2019 article identified eleven novel mutations of the ALDH3A2 gene among thirty-five patients, contributing to a better understanding of the phenotypic and mutational spectrum of SLS.
- The research findings highlight the importance of molecular diagnostics in SLS and suggest potential implications for understanding founder effects in the context of biallelic mutations, ultimately aiming to enhance clinical management of the condition.
