Germline copy number variants in RUNX1: An updated case report and a decade-old red herring

Germline copy number variants in RUNX1: An updated case report and a decade-old red herring

Abstract Pathogenic/likely pathogenic (P/LP) germline variants in RUNX1 cause familial platelet disorder with associated myeloid malignancies (FPDMM), also known as RUNX1-Familial Platelet Disorder (RUNX1-FPD, or FPD), a condition characterized by qualitative and quantitative platelet defects and pr...

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Bibliographic Details
Main Authors: Natalie T. Deuitch, Amra Kajdic, Erica Bresciani, Marshall S. Horwitz, Hamish S. Scott, Katie Craft, Shawn Chong, David J. Young, Lucy A. Godley, Paul P. Liu
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:BJC Reports
Online Access:https://doi.org/10.1038/s44276-024-00117-y
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https://doi.org/10.1038/s44276-024-00117-y

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