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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...
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| Veröffentlicht in: | Cold Spring Harb Mol Case Stud |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2018
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| Schlagworte: | |
| Online Zugang: | 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 |
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