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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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Bibliografiska uppgifter
I publikationen:Pediatr Nephrol
Huvudupphovsmän: Tobin, Jonathan L., Beales, Philip L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2007
Ämnen:
Länkar: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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