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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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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 |
Sumario: | 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. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure. |
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