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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664429/
https://www.ncbi.nlm.nih.gov/pubmed/29089047
http://dx.doi.org/10.1186/s13073-017-0482-5

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