MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations

Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance an...

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Detalhes bibliográficos
Publicado no:Leuk Res
Main Authors: McReynolds, Lisa J., Yang, Yanqin, Wong, Hong Yuen, Tang, Jingrong, Zhang, Yubo, Mulé, Matthew P., Daub, Janine, Palmer, Cindy, Foruraghi, Ladan, Liu, Qingguo, Zhu, Jun, Wang, Weixin, West, Robert R., Yohe, Marielle E., Hsu, Amy P., Hickstein, Dennis D., Townsley, Danielle M., Holland, Steven M., Calvo, Katherine R., Hourigan, Christopher S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6340496/
https://ncbi.nlm.nih.gov/pubmed/30578959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.leukres.2018.11.013
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