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Bardet–Biedl syndrome: A rare cause of end stage renal disease

Bardet–Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation....

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Pubblicato in:Int J Appl Basic Med Res
Autore principale: Hemachandar, R
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medknow Publications & Media Pvt Ltd 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4318109/
https://ncbi.nlm.nih.gov/pubmed/25664275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2229-516X.149254
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