Publications by authors named "Salaheddine Redouan"
Article Synopsis
- Syndromic hearing loss (SHL) is a condition involving hearing impairment and other health issues, with over 400 known syndromes, making early diagnosis crucial for managing associated risks.
- This study analyzed the genetic causes of hearing loss in three Moroccan patients using whole exome sequencing, discovering specific mutations linked to Perrault syndrome and D-bifunctional protein deficiency.
- The findings emphasize the power of whole exome sequencing and bioinformatics in identifying harmful genetic mutations and understanding their impacts on protein function.
