Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Recent work has established that heterozygous germline GATA2 mutations predispose carriers to familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), “MonoMAC” syndrome, and DCML deficiency. Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr3...

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Main Authors: Kazenwadel, Jan, Secker, Genevieve A., Liu, Yajuan J., Rosenfeld, Jill A., Wildin, Robert S., Cuellar-Rodriguez, Jennifer, Hsu, Amy P., Dyack, Sarah, Fernandez, Conrad V., Chong, Chan-Eng, Babic, Milena, Bardy, Peter G., Shimamura, Akiko, Zhang, Michael Y., Walsh, Tom, Holland, Steven M., Hickstein, Dennis D., Horwitz, Marshall S., Hahn, Christopher N., Scott, Hamish S., Harvey, Natasha L.
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Hematology 2012
Assuntos:
Myeloid Neoplasia
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3277359/
https://ncbi.nlm.nih.gov/pubmed/22147895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-08-374363
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