Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Pediatric stroke can be either hemorrhagic or ischemic, with ∼5% of hemorrhagic strokes being caused by genetic coagulopathies. We report an 8 mo old presenting with a hemorrhagic stroke caused by severe Factor XIII deficiency (OMIM # 613225) in whom rapid whole-genome sequencing identified a novel...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cold Spring Harb Mol Case Stud
Prif Awduron: Briggs, Benjamin, James, Kiely N., Chowdhury, Shimul, Thornburg, Courtney, Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Cold Spring Harbor Laboratory Press 2018
Pynciau:
Rapid Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6318776/
https://ncbi.nlm.nih.gov/pubmed/30404926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003525
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg