Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP

Abstract We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozyg...

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Bibliographic Details
Main Authors: Ruiqing Zhou, Jiahuan Wang, Ahui Wang, Shunqing Wang, Yumiao Li, Shilin Xu, Wenjian Mo
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Medical Genomics
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Online Access:https://doi.org/10.1186/s12920-024-02051-x
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