Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调：新病例报告和长期随访
期刊:EBioMedicine
影响因子:9.7
doi:10.1016/j.ebiom.2025.105864
Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier
