Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Vignard V, Maillasson M, Bigot A, Kury S, Besnard T, Broly M, Guého A, Com E, Davis E, Deb W, Florenceau L, Sobriel K, Ménard G, Gardie B, Goldenberg A, Porrmann J, Richardson R, Ruffier L, Hadj-Rabia S, Bézieau S, Barbarot S, Ebstein F, Mercier S

EBiomedicine