Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE
BackgroundHereditary thrombocytopenias constitute a genetically heterogeneous cause of increased bleeding. We report a case of a 17-year-old boy suffering from severe macrothrombocytopenia throughout his life. Whole genome sequencing revealed the presence of two compound heterozygous variants in GNE...
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Autores principales: | , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://doaj.org/article/020bc09b34dc4574968d73546593a7ae |
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