Associated Papers
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Pathophysiology of Primary Cilia: Signaling and Proteostasis Regulation.
Senatore E et al.
Frontiers in Cell and Developmental Biology, 2022
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.
Senatore E et al.
The Embo Journal, 2021
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
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