Biallelic STAB1 pathogenic variants cause hereditary hyperferritinemia
Edoardo Monfrini, Sara Pelucchi, Maija Hollmén, Miro Viitala, Raffaella Mariani, Francesca Bertola, Silvia Majore, Alessio Di Fonzo, Alberto Piperno
The paper identifies biallelic STAB1 mutations as a genetic cause of inherited hyperferritinemia without iron overload.
medRxiv · Nov 24, 2022 · PreprintGenetic & Genomic Medicine