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Genetic study of Alport syndrome in Tunisia.

Mariem El YounsiAhlem AchourLilia KraouaMezzi NesrineTaha SayariEzzeddine AbderrahimJanet LaabidiMohamed Karim ZouaghiMaher KharratTahar GargahMediha TrabelsiRidha M'rad
Published in: Pediatric nephrology (Berlin, Germany) (2024)
This study is the first to screen the mutational spectrum of Alport syndrome in Tunisia. It reveals novel pathogenic variants and suggests that autosomal recessive inheritance may be more common in the Tunisian population than X-linked inheritance, contrary to existing literature.
Keyphrases
  • systematic review
  • mitochondrial dna
  • copy number
  • high throughput
  • autism spectrum disorder