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 the...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Wiley
2025-06-01
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| Cyfres: | eJHaem |
| Pynciau: | |
| Mynediad Ar-lein: | https://doi.org/10.1002/jha2.70068 |
| Tagiau: |
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