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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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Detalles Bibliográficos
Autor principal: Hemachandar, R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318109/
https://www.ncbi.nlm.nih.gov/pubmed/25664275
http://dx.doi.org/10.4103/2229-516X.149254