Germline ETV6 mutations and predisposition to hematological malignancies.

Abstract excerpt

Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. Some patients who present similarly have inherited mutations in RUNX1 or ANKRD26. All three germline syndromes are also associated with a...

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• Share to ETS Translocation Variant 6 Protein
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• Share to Leukemia, Myeloid, Acute