Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of SLFN14 Gene: A Case Report

ABSTRACT Inherited thrombocytopenias (ITs) are a diverse group of hematological disorders. This study reports a novel case of severe thrombocytopenia in two male twins from nonconsanguineous parents. Whole exome sequencing (WES) identified a heterozygous genetic variant (c.1766T > C; p.L589S) in...

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Bibliographic Details
Main Authors: Kun Yang, Peixiao Fu, Jinyun Xu, Hao Jiang, Jie Yu, Chunhai Luo, Jiaowei Gu
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:eJHaem
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Online Access:https://doi.org/10.1002/jha2.70068
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