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Hereditary thrombotic thrombocytopenic purpura mimicking idiopathic thrombocytopenic purpura was revealed by miscarriage——Novel Compound Heterozygous Mutations in hTTP

2024-04-30

Abstract excerpt

<title>Abstract</title> <p>We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-years old girl, who suffered from solely thrombocytopenia and was misdiagnosed as idiopathic thrombocytopenic purpura for years until two failed gestations finally revealed the underlying cause. Novel compound heterozygous mutations c.2865G>A:p.Trp955X and c.721delG:p.Gly241fs in ADAMTS13 gene were fo...

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Literature Corpus work
c1ba3dcf-495e-536a-a7e4-6e90995b78d1
DOI
10.21203/rs.3.rs-4283536/v1
Open publication

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