Bernard-Soulier syndrome, type A2, autosomal dominant

A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.

Also known as: BSSA2, Bernard-Soulier syndrome, type A2 (dominant), Bernard-Soulier syndrome, type A2, autosomal dominant, Bernard-Soulier syndrome type A2

44 clinical trials for this condition and its sub-types.