Cargando…
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations
Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and ataxia-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelo...
Autores principales: | Ahmed, Ibrahim A., Farooqi, Midhat S., Vander Lugt, Mark T., Boklan, Jessica, Rose, Melissa, Friehling, Erika D., Triplett, Brandon, Lieuw, Kenneth, Saldana, Blachy Davila, Smith, Christine M., Schwartz, Jason R., Goyal, Rakesh K. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7110513/ https://www.ncbi.nlm.nih.gov/pubmed/31306780 http://dx.doi.org/10.1016/j.bbmt.2019.07.007 |
Ejemplares similares
-
Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells
por: Thomas, Melvin E., et al.
Publicado: (2021) -
Evolution and divergence of the mammalian SAMD9/SAMD9L gene family
por: Lemos de Matos, Ana, et al.
Publicado: (2013) -
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
por: Davidsson, Josef, et al.
Publicado: (2018) -
Germline SAMD9 Mutation in Siblings with Monosomy 7 and Myelodysplastic Syndrome
por: Schwartz, Jason R., et al.
Publicado: (2017) -
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes
por: Sahoo, Sushree S., et al.
Publicado: (2020)