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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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Detalhes bibliográficos
Publicado no:Int J Appl Basic Med Res
Autor principal: Hemachandar, R
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2015
Assuntos:
Acesso em linha: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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