The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension. Genetically, it is associated with aneuploid...

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Detalles Bibliográficos
Autores principales: Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983173/
https://www.ncbi.nlm.nih.gov/pubmed/29549119
http://dx.doi.org/10.1101/mcs.a002469

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983173/
https://www.ncbi.nlm.nih.gov/pubmed/29549119
http://dx.doi.org/10.1101/mcs.a002469

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