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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Publicat a:Leuk Res
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Article
Accés en línia: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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