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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Détails bibliographiques
Publié dans:Leuk Res
Auteurs principaux: 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
Langue:Inglês
Publié: 2018
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Article
Accès en ligne: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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