Bernard–Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the...
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous Thrombolytic Dystrophy, is an extremely rare inherited blood clotting disorder characterized by giant platelet cells, thrombocytopenia, and prolonged bleeding time. In 1948, Jean-Bernard and Jean-Pierre Soulier described the first male patien...
Bernard-Soulier syndrome (BSS) is a rare hemorrhagic disorder characterized by giant platelets, thrombocytopenia, and a prolonged bleeding time with an autosomal recessive pattern of inheritance. We experienced a patient with BSS presenting as an intracerebral hemorrhage (ICH) who fortunately improved by...
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001; 97 (5):1330–5... A Savoia - 《Blood》 被引量: 216发表: 2001年 Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard...
Point mutation in a leucine-rich repeat of platelet glycoprotein Ibα resulting in the Bernard-Soulier-Syndrome J Clin Invest., 92 (1993), pp. 1213-1220 View in ScopusGoogle Scholar 20. Shattil SJ, Kashiwagi H, Pamporri N Integrin signaling: the platelet paradigm Blood., 91 (1998), pp....
Bernard-Soulier syndromeGP Ib mutationAfrican American familiesBernard-Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of ...
More than 20 DNA mutations with different inheritance pattern have been described in patients with Bernard-Soulier Syndrome (BSS), leading to abnormal or absent synthesis and/or expression of GPIbalpha. Clinical phenotype shows considerable variation between individuals, such as bleeding, platelet count...
A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopeniaBernard Soulier syndromegiant plateletsheterozygous mutationmacrothrombocytopeniaInherited macrothrombocytopenia is one of the subgroup of inherited thrombocytopenias with variable bleeding tendencies presenting...