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1.	Abbafati, Cristiana, et al. (author) 2020 Journal article (peer-reviewed)
2.	Ostergaard, Pia, et al. (author) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 2011 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:10 Journal article (peer-reviewed)abstract 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.

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Author/Editor: Johansson, Lars (1); Sulo, Gerhard (1); Hassankhani, Hadi (1); Liu, Yang (1); Ali, Muhammad (1); Mitchell, Philip B (1); show more...; McKee, Martin (1); Madotto, Fabiana (1); Abolhassani, Hassan (1); Rezaei, Nima (1); Castro, Franz (1); Koul, Parvaiz A. (1); Weiss, Daniel J. (1); Mäkinen, Taija (1); Ackerman, Ilana N. (1); Brenner, Hermann (1); Ferrara, Giannina (1); Salama, Joseph S. (1); Mullany, Erin C. (1); Abbafati, Cristiana (1); Bensenor, Isabela M. (1); Bernabe, Eduardo (1); Carrero, Juan J. (1); Cercy, Kelly M. (1); Zaki, Maysaa El Saye ... (1); Esteghamati, Alireza (1); Esteghamati, Sadaf (1); Fanzo, Jessica (1); Farzadfar, Farshad (1); Foigt, Nataliya A. (1); Grosso, Giuseppe (1); Islami, Farhad (1); James, Spencer L. (1); Khader, Yousef Saleh (1); Kimokoti, Ruth W. (1); Kumar, G. Anil (1); Lallukka, Tea (1); Lotufo, Paulo A. (1); Mendoza, Walter (1); Nagel, Gabriele (1); Nguyen, Cuong Tat (1); Nixon, Molly R. (1); Ong, Kanyin L. (1); Pereira, David M. (1); Rivera, Juan A. (1); Sanchez-Pimienta, Ta ... (1); Shin, Min-Jeong (1); Thrift, Amanda G. (1); Tran, Bach Xuan (1); Uthman, Olalekan A. (1); show less...

University: Uppsala University (2); Karolinska Institutet (1); Högskolan Dalarna (1)

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