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Bardet-Biedl syndrome: A rare genetic disease
Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features. There are 17 BBS genes (BBS1-BBS17) descr...
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| 出版年: | J Pediatr Genet |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2013
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| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020962/ https://ncbi.nlm.nih.gov/pubmed/27625843 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13051 |
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