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Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical m...
Tallennettuna:
| Päätekijät: | , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2013
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3522196/ https://ncbi.nlm.nih.gov/pubmed/22713813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.115 |
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