Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause in the majority of cases remains uncertain. It is clear that...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Chapman, Gavin, Moreau, Julie L M, I P, Eddie, Szot, Justin O, Iyer, Kavitha R, Shi, Hongjun, Yam, Michelle X, O’Reilly, Victoria C, Enriquez, Annabelle, Greasby, Joelene A, Alankarage, Dimuthu, Martin, Ella M M A, Hanna, Bernadette C, Edwards, Matthew, Monger, Steven, Blue, Gillian M, Winlaw, David S, Ritchie, Helen E, Grieve, Stuart M, Giannoulatou, Eleni, Sparrow, Duncan B, Dunwoodie, Sally L
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7068028/
https://ncbi.nlm.nih.gov/pubmed/31813956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz270
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