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Bardet-Biedl syndrome in two sisters: A rare incidence
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2013
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020959/ https://ncbi.nlm.nih.gov/pubmed/27625840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13048 |
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