Infundibular stenosis in Bardet-Biedl syndrome.


A 22-year-old Caucasian man was referred for nephrolithiasis. Episodes of low back pain started at age 12, when bilateral calculi and cysts were detected by renal ultrasound. His phenotype was complex, including cognitive disability, visual impairment due to rod–cone dystrophy, primary hypogonadism, and post-axial foot polydactyly. In the past 10 years he… (More)
DOI: 10.1038/ki.2011.96


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