Article
Unfolding the genetic map of monogenic liver diseases in Egypt.
Human genetics - 1 Dec 2025
El-Karaksy Hanaa, Mogahed Engy A, Baroudy Sherif, Ghita Haytham, Enayet Afaf, El-Sharkawy Marwa, Radwan Noha A, Hosny Heba, Elmonem Mohamed A
Abstract excerpt
Monogenic liver disorders constitute a major disease burden in pediatric patients presenting with manifestations of liver disease. This is particularly significant in countries with high rates of consanguinity as in Egypt. We recruited 228 infants and children suffering from various forms of liver disease with suspected monogenic background and no conclusive biochemical diagnosis. They presented to the Pediatric...
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