Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome

BACKGROUND: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA (MVA1) is caused by mutations in the budding uninhibited by benzimidazoles 1 homolog beta (BUB1B) gene. The main clinical f...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Laberko, Alexandra, Balashov, Dmitry, Deripapa, Elena, Soldatkina, Olga, Raikina, Elena, Maschan, Alexei, Novichkova, Galina, Shcherbina, Anna
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6500003/
https://ncbi.nlm.nih.gov/pubmed/31053147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1073-x
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