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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...
Autores principales: | Sahin, Cem, Huddam, Bulent, Akbaba, Gulhan, Tunca, Hasan, Koca, Emine, Levent, Mustafa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413955/ https://www.ncbi.nlm.nih.gov/pubmed/25960897 http://dx.doi.org/10.1155/2015/764973 |
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