Article
Patient-derived cellular models of primary ciliopathies.
Journal of medical genetics - 1 Jun 2022
Pollara Lidia, Sottile Virginie, Valente Enza Maria
Abstract excerpt
Primary ciliopathies are rare inherited disorders caused by structural or functional defects in the primary cilium, a subcellular organelle present on the surface of most cells. Primary ciliopathies show considerable clinical and genetic heterogeneity, with disruption of over 100 genes causing the variable involvement of several organs, including the central nervous system, kidneys, retina, skeleton and liver....
Topics
- Animals
- Cilia
- Ciliopathies
- Humans
- Mutation
- Phenotype
- Retina