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Article

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).

Seminars in hematology - 1 Apr 2017

Schlegelberger Brigitte, Heller Paula G

Abstract excerpt

In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with (1) mild to moderate thrombocytopenia with normal-sized platelets; (2) functional platelets defects leading to prolonged bleeding; and (3) an increased risk to...

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Source

Identifiers

PMID: 28637620
DOI: 10.1053/j.seminhematol.2017.04.006

Genes

RUNX1

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