Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
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Baud O, Picard V, Durand P, Duchemin J, Proulle V, Alhenc-Gelas M, Devictor D, Dreyfus M
Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
J Pediatr. 2001 Nov;139(5):741-3.
- PubMed ID
- 11713457 [ View in PubMed]
- 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.