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Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation

Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelod...

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Detalles Bibliográficos
Autores principales: Lübking, Anna, Vosberg, Sebastian, Konstandin, Nikola P., Dufour, Annika, Graf, Alexander, Krebs, Stefan, Blum, Helmut, Weber, Axel, Lenhoff, Stig, Ehinger, Mats, Spiekermann, Karsten, Greif, Philipp A., Cammenga, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672090/
https://www.ncbi.nlm.nih.gov/pubmed/26716079
http://dx.doi.org/10.1016/j.lrr.2015.10.001