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Article

Platelet genetic testing by next-generation sequencing: A practical update.

International journal of laboratory hematology - 1 Oct 2023

Chen Dong, Pruthi Rajiv K

Abstract excerpt

Inherited platelet disorders (IPDs) are a heterogeneous group of disorders characterized by normal or reduced platelet counts, bleeding diatheses of varying severities, and the presence (syndromic) or absence (non-syndromic) of involvement of other organs. Due to the lack of highly specific platelet function tests and overlapping clinical and laboratory features, diagnosing the underlying cause of IPDs remains...

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PMID: 37463678
DOI: 10.1111/ijlh.14136

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