Article

Bardet–Biedl Syndrome: Delayed Diagnosis in a 14-Year-Old Child with End-Stage Renal Disease

2023-02-27

Abstract excerpt

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.

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Literature Corpus work: 0ec6759a-742a-5757-adf4-a3f459365060
DOI: 10.22541/au.167750675.52818714/v1

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