Article
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
American journal of human genetics - 3 Aug 2023
Monfrini Edoardo, Pelucchi Sara, Hollmén Maija, Viitala Miro, Mariani Raffaella, Bertola Francesca, Majore Silvia, Di Fonzo Alessio, Piperno Alberto
Abstract excerpt
Hyperferritinemia is a frequent finding in several conditions, both genetic and acquired. We previously studied eleven healthy subjects from eight different families presenting with unexplained hyperferritinemia. Their findings suggested the existence of an autosomal-recessive disorder. We carried out whole-exome sequencing to detect the genetic cause of hyperferritinemia. Immunohistochemistry and flow cytometry...
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