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Bardet–Biedl Syndrome in an Ethiopian
Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardatio...
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| Vydáno v: | Int Med Case Rep J |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Dove
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7989368/ https://ncbi.nlm.nih.gov/pubmed/33776488 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/IMCRJ.S299421 |
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