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, Küry 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.

Open source

DOI
10.1016/j.ebiom.2025.105864
Published
2025-08-20
Container
EBioMedicine
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ebiom.2025.105864,
  title = {Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.},
  author = {Vignard V and  Maillasson M and  Bigot A and  Küry S and  Besnard T and  Broly M and  Guého A and  Com E and  Davis E and  Deb W and  Florenceau L and  Sobriel K and  Ménard G and  Gardie B and  Goldenberg A and  Porrmann J and  Richardson R and  Ruffier L and  Hadj-Rabia S and  Bézieau S and  Barbarot S and  Ebstein F and  Mercier S.},
  year = {2025},
  journal = {EBioMedicine},
  doi = {10.1016/j.ebiom.2025.105864},
  url = {https://doi.org/10.1016/j.ebiom.2025.105864}
}

RIS

TY  - JOUR
TI  - Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
AU  - Vignard V
AU  -  Maillasson M
AU  -  Bigot A
AU  -  Küry S
AU  -  Besnard T
AU  -  Broly M
AU  -  Guého A
AU  -  Com E
AU  -  Davis E
AU  -  Deb W
AU  -  Florenceau L
AU  -  Sobriel K
AU  -  Ménard G
AU  -  Gardie B
AU  -  Goldenberg A
AU  -  Porrmann J
AU  -  Richardson R
AU  -  Ruffier L
AU  -  Hadj-Rabia S
AU  -  Bézieau S
AU  -  Barbarot S
AU  -  Ebstein F
AU  -  Mercier S.
PY  - 2025
JO  - EBioMedicine
DO  - 10.1016/j.ebiom.2025.105864
UR  - https://doi.org/10.1016/j.ebiom.2025.105864
ER  - 

APA

V, V., M, M., A, B., S, K., T, B., M, B., A, G., E, C., E, D., W, D., L, F., K, S., G, M., B, G., A, G., J, P., R, R., L, R., S, H., S, B., S, B., F, E., & S., M. (2025). Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.. EBioMedicine. https://doi.org/10.1016/j.ebiom.2025.105864

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