Gene of the issue: RUNX1 mutations and inherited bleeding
Sign Up to like & getrecommendations! Published in 2017 at "Platelets"
DOI: 10.1080/09537104.2017.1280151
Abstract: Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) (OMIM #601399) is an autosomal dominant disorder characterized by quantitative and qualitative platelet defects and an increased risk of AML. FPD/AML shares phenotypic similarities with… read more here.
Keywords: runx1; fpd aml; runx1 defects; gene ... See more keywords
Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis
Sign Up to like & getrecommendations! Published in 2024 at "British Journal of Haematology"
DOI: 10.1111/bjh.19776
Abstract: Correct interpretation of the pathogenicity of germline RUNX1 variants is essential for FPD/AML diagnosis, clinical management and leukaemia surveillance. We report two families with clear FPD/AML phenotypic features harbouring missense variants at RHD critical residue… read more here.
Keywords: aml diagnosis; runx1 variants; two novel; fpd aml ... See more keywords