Haematologica
GATA2 at 14: genotype-phenotype correlations.
Amy P Hsu, Subrata Paul, Jennifer L Kwan, Philip L F Johnson, Justin Lack, Eva P Szymanski, Jana Lovell, Ladan Foruraghi, Cindy Palmer, Christa S Zerbe, Janine R Daub, Joie Davis, Dennis D Hickstein, Katherine R Calvo, Steven M Holland
Published: 202610.3324/haematol.2024.287013
Abstract
GATA2 mutations cause adult-onset bone-marrow failure characterized by cytopenias, infections and increased risk of myeloid malignancy. We reviewed hospital records and referrals of 232 GATA2 mutated individuals from 122 families to gather hematopoie…
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