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Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease
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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319965/ https://www.ncbi.nlm.nih.gov/pubmed/37415582 http://dx.doi.org/10.1002/ccr3.7649 |