European journal of human genetics : EJHG
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.
Marie-Charlotte Villy, Youenn Drouet, Lise Larcher, Yoann Vial, Benjamin Dauriat, Léa Veyrune, Laurène Fenwarth, Marie-Mathilde Auboiroux, Lucie Freiman, Sophie Nambot, Léa Patay, Marjolaine Willems, Emma Lachaier, Bénédicte Bonte, Delphine Lebon
Published: 202510.1038/s41431-025-01952-4
Abstract
Monoallelic germline DDX41 pathogenic variants (PV) are responsible for the most frequent monogenic predisposition to myeloid neoplasms (MN), i.e., to myelodysplastic syndrome and acute myeloid leukemia. MN are rare clonal diseases affecting hematopo…
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