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Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure
Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been d...
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| Publicado no: | Case Rep Nephrol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4413955/ https://ncbi.nlm.nih.gov/pubmed/25960897 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/764973 |
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