Review
Open access
Sep 2026
Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis.
BACKGROUND Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders characterized by impaired bile formation and secretion, frequently progressing to cirrhosis and end-stage liver disease. This study characterized the genotypic and phenotypic spectrum of PFIC in a pediatric cohor...
Manal Abdel Gawad, A. Mahfouz, M. Abdel-Hadi et al.
· Pediatric Research · 0 citations