Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Bernard-Soulier syndrome
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.
This condition has no sub-types.