Genetic and Clinical Evaluation of Pediatric Cystic Kidney Diseases: Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease.

Abstract excerpt

Cystic kidney diseases are an important cause of pediatric morbidity and mortality. Most genetic cystic kidney diseases are "ciliopathies", a group of disorders that share a common feature of abnormal structure or function of the primary cilia. Ciliopathies represent a broad range of clinically and genetically heterogenous disorders, which affect multiple organ systems. Autosomal dominant polycystic kidney...

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