Fiche publication
Date publication
mai 2026
Journal
Liver international : official journal of the International Association for the Study of the Liver
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BRONOWICKI Jean-Pierre
,
Pr GUEANT Jean-Louis
,
Pr NAMOUR Bernard
,
Pr OUSSALAH Abderrahim
Tous les auteurs :
Morel P, Silva Rodriguez M, Benmouffek C, Goksen B, Chéry C, Haghnejad V, Bensenane M, Feillet F, Guéant JL, Namour F, Bronowicki JP, Oussalah A
Lien Pubmed
Résumé
Hyperferritinemia encompasses heterogeneous genetic etiologies beyond HFE-related hemochromatosis. Current guidelines recommend testing for rare hemochromatosis genes, yet no consensus exists on comprehensive genomic approaches. We aimed to characterise the genetic landscape of unexplained hyperferritinemia using clinical exome sequencing (CES) and evaluate genotype-phenotype correlations across functional pathways.
Mots clés
clinical exome sequencing, digenic inheritance, genotype–phenotype correlation, hemochromatosis, hyperferritinemia, iron overload
Référence
Liver Int. 2026 05;46(5):e70646
