A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed. RUNX1 has also been found to be mutated in up to 10% of adult AML cases and other cell ma...

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Bibliographic Details
Main Authors: Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan
Format: Article
Language:English
Published: Taylor & Francis Group 2022-02-01
Series:Platelets
Subjects:
bleeding
cnv
ngs
platelet disorder
runx1
thrombocytopenia
Online Access:http://dx.doi.org/10.1080/09537104.2021.1887470

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