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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2007
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904379/ https://www.ncbi.nlm.nih.gov/pubmed/17357787 http://dx.doi.org/10.1007/s00467-007-0435-0 |