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Genetic Characterization of a Model Ciliopathy: Bardet–Biedl Syndrome
Bardet–Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with het...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2021
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110344/ https://ncbi.nlm.nih.gov/pubmed/33996183 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1708844 |
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