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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...
保存先:
| 出版年: | Int Med Case Rep J |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Dove
2021
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| 主題: | |
| オンライン･アクセス: | 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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