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We recommend that in case of thrombophilic state, serum homocysteine (Hcy), folic acid, and vitamin B12 levels should be routinely screened; when serum Hcy level is extremely high, congenital diseases caused by gene mutations should be considered. We firstly discovered a new mutation of CBS c.949A>G which had not been reported before.

Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation