Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease.
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ABSTRACT:
SUBMITTER: Rasel M
PROVIDER: S-EPMC10319965 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
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Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease.
Rasel Mohammad M Istiak Ashif A Saiara Afra A Al-Jubair Abdullah A Matin Shariful S Roy Gobinda Chandra GC
Clinical case reports 20230704 7
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14-year-old boy with a typical phenotype of BBS who remains undiagnosed until the development of end-stage renal disease. ...[more]
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