Simone Cesaro: GNE-Related Thrombocytopenia – New Findings
Simone Cesaro, Director of Pediatric Hematology Oncology at the Integrated University Hospital of Verona (AOUI), shared a post on LinkedIn about a recent article he and his colleges co-authored, published in Journal of Thrombosis and Haemostasis, adding:
“In this report, the authors characterized 3 novel variants of the gene GNE, associated to cases of severe thrombocytopenia and demonstrated the pathogenicity of 2 variants of uncertain significance.
GNE gene encodes a key enzyme in sialic acid biosynthesis.
Severe thrombocytopenia GNE-related thrombocytopenia.”
Title: Characterization of a series of patients with GNE-related thrombocytopenia: insights into pathogenesis, diagnosis, and treatment
Authors: Serena Barozzi, Christian A. Di Buduo, Stefania Zampieri, Federica Isidori, Simone Frisari, Giuseppe Lassandro, Marco Lunghi, Alice Martinotti, Valeria Bozzi, Tommaso Mina, Simone Cesaro, Tommaso Pippucci, Paola Giordano, Alessandra Balduini, Alessandro Pecci
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