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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Detalles Bibliográficos
Autores principales: Sahin, Cem, Huddam, Bulent, Akbaba, Gulhan, Tunca, Hasan, Koca, Emine, Levent, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
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

Internet

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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