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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: Rigler, Shannon L., Kay, Denise M., Sicko, Robert J., Fan, Ruzong, Liu, Aiyi, Caggana, Michele, Browne, Marilyn L., Druschel, Charlotte M., Romitti, Paul A., Brody, Lawrence C., Mills, James L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Article
Mynediad Ar-lein: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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