A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines
一种新的多系统ERCC1肝肾综合征:来自临床队列、分子发病机制和治疗指南的见解
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01910-0
White, Susan M; Wondergem, Annelotte P; Breet, Isa; Dittmaier, Maren; Bell, Katrina; Richmond, Christopher M; Hardikar, Winita; Bhatia, Kanika; Quinlan, Catherine; Orchard, David; D'Souza, Areetha; Chazin, Walter J; Smith, Christopher; Sparkes, Rebecca; Lam, Simon; Carter, Alexandra; Hopkin, Robert J; Khendek, Leticia; Sullivan, Bonnie R; Becher, Naja; Simonsen, Anne Katrine W; Kvistgaard, Helene; Dempsey, Katherine; Miethke, Alexander G; Gregersen, Pernille Axél; Phillips, Eliza; Luijsterburg, Martijn S