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The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect

BACKGROUND: The ciliopathies are a growing number of disorders caused by mutations in genes involved in the function of the primary cilium. Bardet-Biedl syndrome (BBS) belongs to this group of disorders. In this setting, kidney dysfunction is highly variable, and urine concentrating defect, a common...

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Bibliografiske detaljer
Udgivet i:Kidney Dis (Basel)
Main Authors: Zacchia, Miriam, Di Iorio, Valentina, Trepiccione, Francesco, Caterino, Marianna, Capasso, Giovambattista
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5566761/
https://ncbi.nlm.nih.gov/pubmed/28868293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000475500
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