Chinese Journal of Nephrology, Dialysis & Transplantation ›› 2012, Vol. 21 ›› Issue (6): 582-586.
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ABSTRACT A 16-years old patient with polydactyly, retinitis pigmentosa, obesity, renal cysts, chronic renal insufficiency, and gonadal dysgenesis was reported and diagnosed as Bardet-Biedl-Syndrome which is a autosomal recessive genetic disease. This report may be helpful for the clinician to know more about the characteristics of BBS.
Key words: Keywords  , Polydactyly , obesity  , renal cysts  , retinitis pigmentosa
Academic Committee of Research Institute of Nephrology. Polydactyly, obesity, renal insufficiency, and retinitis pigmentosa[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2012, 21(6): 582-586.
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http://www.njcndt.com/EN/Y2012/V21/I6/582