Article
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.
BMC medical genomics - 26 Oct 2021
Li Pengzhu, Jiang Jie, Xi Qiong, Yang Zuocheng
Abstract excerpt
BACKGROUND: Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw-Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very rare case of TTP caused by 2 mutations in the ADAMTS13 gene. Besides, we reviewed and summarized previous pathogenic ADAMTS13 gene mutations associated with the TTP. CASE PRESENTATION: A...
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