Verónica Palma-Barqueros, José María Bastida, María José López Andreo, Ana Zamora Cánovas, Carlo Zaninetti, Juan Francisco Ruiz-Pividal, Natalia Bohdan, José Padilla, Raúl Teruel-Montoya, Ana Marín-Quilez, Nuria Revilla, Ana Sánchez-Fuentes, Agustín Rodriguez-Alen, Rocío Benito, Vicente Vicente, Teodoro Iturbe, Andreas Greinacher, María Luisa Lozano, José Rivera
Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC)
Sociedad Española de Trombosis y Hemostasia (SETH)
Publicado: February 01, 2023DOI: https://doi.org/10.1016/j.jtha.2023.01.023
Essentials
- Germinal RUNX1 variants may cause hematological malignancies at a young age.
- Discerning the pathogenicity of novel RUNX1 variants is critical for patient management.
- Gene expression analysis demonstrates the deleterious effects of Gln268∗ and Thr196Ala variants.
- Platelet transcriptomics is a useful tool for pathogenicity assessment of novel RUNX1 variants.
