Two unrelated patients with Bernard-Soulier syndrome and their relatives were studied. The patients demonstrated severe bleeding diathesis, the relatives were asymptomatic.
P. FABRIS +6 more
core
Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome. [PDF]
Vekaria P +3 more
europepmc +1 more source
Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report. [PDF]
Jannat M +4 more
europepmc +1 more source
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. [PDF]
Barozzi S +6 more
europepmc +1 more source
Giant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome. [PDF]
Bhavana B +10 more
europepmc +1 more source
Recombinant Factor VIIa Prophylaxis in 2 Brothers with Bernard-Soulier Syndrome. [PDF]
Almatar E, Alsharidah S, Hashem OA.
europepmc +1 more source
A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report. [PDF]
Ma J, Chen Z, Li G, Gu H, Wu R.
europepmc +1 more source
Bernard-Soulier Syndrome: Case Studies From Morocco. [PDF]
Lfaquir FZ +4 more
europepmc +1 more source
Biochemical and molecular basis of Bernard-Soulier syndrome: a review
Bernard-Soulier syndrome (BSS) is a rare hereditary recessive autosomal bleeding disorder characterized by a prolonged bleeding time, giant platelets, thrombocytopenia, normal platelet aggregation in response to ADP and no agglutination in response to ...
Lanza, Francois +2 more
core
When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders. [PDF]
Hayward CPM, Tasneem S.
europepmc +1 more source

