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Renal coloboma syndrome
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the pe...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2011
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3230355/ https://ncbi.nlm.nih.gov/pubmed/21654726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.102 |
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