Article
Clinical spectrum and pathogenesis of nephronophthisis.
Current opinion in nephrology and hypertension - 1 May 2012
Benzing Thomas, Schermer Bernhard
Abstract excerpt
PURPOSE OF REVIEW: Nephronophthisis (NPH) comprises a group of autosomal recessive cystic kidney diseases and is the most frequent genetic cause of end-stage renal disease in children and adolescents. Causative mutations in more than a dozen genes have been identified that encode for the NPH protein family. Almost all of these proteins localize to primary cilia leading to the classification of NPH as a...
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