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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Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2018
Soggetti:
Rapid Communication
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983173/
https://ncbi.nlm.nih.gov/pubmed/29549119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002469
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