Disrupted homeostasis and ciliary defects in VPS13B deficient cells: implications for Cohen syndrome 

Lovera Ulecia, Marta (Date of defense: 2023-05-05)

[eng] Cohen syndrome (CS) is an ultra-rare, multi-system, autosomal recessive disorder caused by mutations in the VPS13B gene on chromosome 8q22.2. The most characteristic clinical features of this disorder are microcephaly, ...