Article

Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy

2023-01-17

Abstract excerpt

Germline RUNX1 mutations lead to familial platelet disorder with associated myeloid malignancies (FPDMM), which is characterized by thrombocytopenia and a life-long risk (35-45%) of hematological malignancies. We recently launched a longitudinal natural history study for patients with FPDMM at the NIH Clinical Center. Among 29 families with research genomic data, 28 different germline RUNX1 variants were detecte...

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Literature Corpus work: d29c60d0-c34b-57fc-acaf-13d426795424
DOI: 10.1101/2023.01.17.524290

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