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Managing Bardet–Biedl Syndrome—Now and in the Future
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family...
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| Yayımlandı: | Front Pediatr |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5816783/ https://ncbi.nlm.nih.gov/pubmed/29487844 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00023 |
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