Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas

Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies caused by aberrant development of the foregut. Previous studies indicate that rare or de novo genetic variants significantly contribute to EA/TEF risk, and most individuals with EA/TEF do not have pathogenic geneti...

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Detalles Bibliográficos
Autores principales: Zhong, Guojie, Ahimaz, Priyanka, Edwards, Nicole A., Hagen, Jacob J., Faure, Christophe, Lu, Qiao, Kingma, Paul, Middlesworth, William, Khlevner, Julie, El Fiky, Mahmoud, Schindel, David, Fialkowski, Elizabeth, Kashyap, Adhish, Forlenza, Sophia, Kenny, Alan P., Zorn, Aaron M., Shen, Yufeng, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9065433/
https://www.ncbi.nlm.nih.gov/pubmed/35519826
http://dx.doi.org/10.1016/j.xhgg.2022.100107

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