Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664429/
https://ncbi.nlm.nih.gov/pubmed/29089047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0482-5
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