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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Cold Spring Harb Mol Case Stud
Huvudupphovsmän: Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2018
Ämnen:
Rapid Communication
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk