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Article

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

Platelets - 17 Feb 2022

Almazni Ibrahim, Chudakou Pavel, Dawson-Meadows Alison, Downes Kate, Freson Kathleen, Mason Joanne, Page Paula, Reay Kim, Myers Bethan, Morgan Neil V

Abstract excerpt

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 malignancies. We performed targeted next-generation sequencing and subsequent MLPA analysis in a kindred with multiple...

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Identifiers

PMID: 33616470
DOI: 10.1080/09537104.2021.1887470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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