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

ABSTRACT: 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 variant in the F13A1 gene c.1352_1353delAT (p.His451ArgfsTer29).

SUBMITTER: Briggs B 

PROVIDER: S-EPMC6318776 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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

Briggs Benjamin B   James Kiely N KN   Chowdhury Shimul S   Thornburg Courtney C   Farnaes Lauge L   Dimmock David D   Kingsmore Stephen F SF  

Cold Spring Harbor molecular case studies 20181217 6

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 variant in the <i>F13A1</i> gene c.1352_1353delAT (p.His451ArgfsTer29). ...[more]

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