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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
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2011 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 43, no 10Article in journal (Refereed) Published
Abstract [en]

We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.

Place, publisher, year, edition, pages
2011. Vol. 43, no 10
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-287146DOI: 10.1038/ng.923PubMedID: 21892158OAI: oai:DiVA.org:uu-287146DiVA: diva2:922255
Available from: 2016-04-22 Created: 2016-04-22 Last updated: 2017-11-30

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