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...

書目詳細資料
發表在:	Hematology
Main Authors:	Senlin Zhang, Jing Ling, Kai Cui, Shihong Zhan, Jiajia Zheng, Wenyi Wang, Junjie Fan, Shaoyan Hu
格式:	Article
語言:	英语
出版:	Taylor & Francis Group 2024-12-01
主題:	Bernard–Soulier syndrome inherited thrombocytopenia pediatric GPIb-IX-V complex GP1BA
在線閱讀:	https://www.tandfonline.com/doi/10.1080/16078454.2024.2334642

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