Bernard–Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review

Background: Bernard–Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets.Methods: For more than 6 years, we misdiagnosed a patient with BSS without an obvious blee...

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Bibliographic Details

Published in:	Hematology
Main Authors:	Senlin Zhang, Jing Ling, Kai Cui, Shihong Zhan, Jiajia Zheng, Wenyi Wang, Junjie Fan, Shaoyan Hu
Format:	Article
Language:	English
Published:	Taylor & Francis Group 2024-12-01
Subjects:	Bernard–Soulier syndrome inherited thrombocytopenia pediatric GPIb-IX-V complex GP1BA
Online Access:	https://www.tandfonline.com/doi/10.1080/16078454.2024.2334642