Associated Papers
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Vignard V et al.
Ebiomedicine, 2025
40840166 (PubMed )
Supplement: mmc2.xls › Feuille1
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Ferré EMN et al.
Frontiers in Immunology, 2023
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