Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

PURPOSE: Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes. METHODS: We enrolled...

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Detalles Bibliográficos
Autores principales: Qiao, Lu, Wynn, Julia, Yu, Lan, Hernan, Rebecca, Zhou, Xueya, Duron, Vincent, Aspelund, Gudrun, Farkouh-Karoleski, Christiana, Zygumunt, Annette, Krishnan, Usha S., Nees, Shannon, Khlevner, Julie, Lim, Foong Yen, Crombleholme, Timothy, Cusick, Robert, Azarow, Kenneth, Danko, Melissa Ellen, Chung, Dai, Warner, Brad W., Mychaliska, George B., Potoka, Douglas, Wagner, Amy J., Soffer, Samuel, Schindel, David, McCulley, David J., Shen, Yufeng, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710626/
https://www.ncbi.nlm.nih.gov/pubmed/32719394
http://dx.doi.org/10.1038/s41436-020-0908-0

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