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The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature

Tang, Catherine; Rabbolini, David J.; Morel-Kopp, Marie-Christine; Connor, David; Crispin, Philip; Ward, Christopher; Stevenson, William

Description

Germline mutations of runt-related transcription factor-1 (RUNX1) cause famil-ial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms. A key clinical question is which patients with a family history of thrombo-cytopenia should undergo genetic testing for RUNX1 mutations. Typically, molecular diagnosis by genetic sequencing is performed when the clinical phenotype is sug-gestive of this...[Show more]

CollectionsANU Research Publications
Date published: 2019
Type: Journal article
URI: http://hdl.handle.net/1885/206398
Source: Research and Practice in Thrombosis and Haemostasis
DOI: 10.1002/rth2.12282
Access Rights: Open Access

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