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 include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include...
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