Bernard–Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management

Abstract excerpt

Abstract Bernard–Soulier syndrome (BSS) is an inherited platelet function disorder caused by mutations in the genes that encode the glycoprotein (GP) Ibα and GPIbβ subunits, as well as the GPIX subunit in the GPIbIX complex, which is located on the platelet surface and has roles in platelet adhesion and activation. Patients with autosomal recessively inherited biallelic BSS have a homozygous or compound...