The evolution of cellular deficiency in GATA2 mutation.

doi:10.1182/blood-2013-07-517151

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Article

The evolution of cellular deficiency in GATA2 mutation.

Blood - 6 Feb 2014

Dickinson Rachel E, Milne Paul, Jardine Laura, Zandi Sasan, Swierczek Sabina I, McGovern Naomi, Cookson Sharon, Ferozepurwalla Zaveyna, Langridge Alexander, Pagan Sarah, Gennery Andrew, Heiskanen-Kosma Tarja, Hämäläinen Sari, Seppänen Mikko, Helbert Matthew, Tholouli Eleni, Gambineri Eleonora, Reykdal Sigrún, Gottfreðsson Magnús, Thaventhiran James E, Morris Emma, Hirschfield Gideon, Richter Alex G, Jolles Stephen, Bacon Chris M, Hambleton Sophie, Haniffa Muzlifah, Bryceson Yenan, Allen Carl, Prchal Josef T, Dick John E, Bigley Venetia, Collin Matthew

Abstract excerpt

Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this study, we describe a cross-sectional analysis of 24 patients and 6 relatives with 14 different frameshift or substitution...

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Identifiers

PMID: 24345756
DOI: 10.1182/blood-2013-07-517151
PMCID: PMC3916878

Genes

GATA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24345756-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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