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Article

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.

Pediatric hematology and oncology - 1 Feb 2021

Bagla Shruti, Regling Katherine A, Wakeling Erin N, Gadgeel Manisha, Buck Steven, Zaidi Ahmar U, Flore Leigh A, Chicka Michael, Schiffer Charles A, Chitlur Meera B, Ravindranath Yaddanapudi

Abstract excerpt

RUNX1 associated familial platelet disorder (FPD) is a rare autosomal dominant hematologic disorder characterized by thrombocytopenia and/or altered platelet function. There is an increased propensity to develop myeloid malignancy (MM) - acute myeloid leukemia, myeloproliferative neoplasms or myelodysplastic syndrome often in association with secondary somatic variants in other genes. To date, 23 FPD-MM pediatric...

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PMID: 32990483
DOI: 10.1080/08880018.2020.1814463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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