De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants but did not identify any recurrently mutated genes. To investigate further the genetics...

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Detalles Bibliográficos
Autores principales: Qi, Hongjian, Yu, Lan, Zhou, Xueya, Wynn, Julia, Zhao, Haoquan, Guo, Yicheng, Zhu, Na, Kitaygorodsky, Alexander, Hernan, Rebecca, Aspelund, Gudrun, Lim, Foong-Yen, Crombleholme, Timothy, Cusick, Robert, Azarow, Kenneth, Danko, Melissa E., Chung, Dai, Warner, Brad W., Mychaliska, George B., Potoka, Douglas, Wagner, Amy J., ElFiky, Mahmoud, Wilson, Jay M., Nickerson, Debbie, Bamshad, Michael, High, Frances A., Longoni, Mauro, Donahoe, Patricia K., Chung, Wendy K., Shen, Yufeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301721/
https://www.ncbi.nlm.nih.gov/pubmed/30532227
http://dx.doi.org/10.1371/journal.pgen.1007822

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