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Bardet–Biedl syndrome: beyond the cilium

The Bardet–Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of primary cilia dysfunction underlying pathogenesis. The...

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Foilsithe in:Pediatr Nephrol
Main Authors: Tobin, Jonathan L., Beales, Philip L.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer Berlin Heidelberg 2007
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904379/
https://ncbi.nlm.nih.gov/pubmed/17357787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-007-0435-0
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