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Bardet-Biedl syndrome: multiple fingers with multiple defects!
Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration. H...
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| Publicado en: | BMJ Case Rep |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4680628/ https://ncbi.nlm.nih.gov/pubmed/26611481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-211776 |
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