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Novel copy-number variants in a population-based investigation of classic heterotaxy
PURPOSE: Heterotaxy is a clinically and genetically heterogeneous disorder. We investigated whether screening cases restricted to a classic phenotype would result in the discovery of novel, potentially causal copy-number variants. METHODS: We identified 77 cases of classic heterotaxy from all live b...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5901701/ https://ncbi.nlm.nih.gov/pubmed/25232849 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.112 |
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