Original paper
Bernard–Soulier syndrome: first human case due to a homozygous deletion of GP9 gene
Abstract
Bernard–Soulier Syndrome (BSS) is a rare (1:1 million) hereditary bleeding disorder caused by defects in the platelet glycoprotein (GP)-Ib/IX/V complex, a receptor for von Willebrand factor (VWF) and thrombin (Lanza, 2006; Berndt & Andrews, 2011). Patients typically present with epistaxis, petechial or gingival bleeding with onset already in infancy. They present with macrothrombocytopenia and their platelets do not agglutinate in response to...
Paper Details
Title
Bernard–Soulier syndrome: first human case due to a homozygous deletion of GP9 gene
Published Date
Feb 6, 2020
Volume
188
Issue
6
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