Article
Ciliopathies: an expanding disease spectrum.
Pediatric nephrology (Berlin, Germany) - 1 Jul 2011
Waters Aoife M, Beales Philip L
Abstract excerpt
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that inc...
Topics
- Animals
- Cilia
- Ciliary Motility Disorders
- Genetic Predisposition to Disease
- Humans
- Kidney Diseases
- Liver Diseases
- Mutation
- Phenotype
- Retinal Diseases
- Signal Transduction