Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
case_report · Level V
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- Record sourced from PubMed, PMID 11713457.
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Abstract
Fatal cerebral hemorrhage involving the left thalamus in a neonate was attributed to deep cerebral vein thrombosis. Although antithrombin levels were at the lower end of the normal range, family and genetic studies showed constitutional type I antithrombin deficiency related to a novel missense mutation in the antithrombin gene.
Medical subject headings
- Antithrombins
- Cerebral Hemorrhage
- Point Mutation