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Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary...
Enregistré dans:
| Publié dans: | Mol Syndromol |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
S. Karger AG
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906432/ https://ncbi.nlm.nih.gov/pubmed/27385962 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445491 |
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