Fiona Poyer Raúl Jimenez Heredia Wolfgang Novak Petra Zeitlhofer Karin Nebral Michael N Dworzak Oskar A Haas Kaan Boztug Leo Kager
10.3389/fimmu.2022.869047
Front Immunol
2022 Jun 24;13:869047.
nhej1 nhej1-deficiency del(20q) monosomy 7 myelodysplastic syndrome refractory cytopenia
CC BY
https://pubmed.ncbi.nlm.nih.gov/35812385/
Hematopoietic Stem Cell Transplantation Myelodysplastic Syndromes / genetics
Hematopoietic Stem Cell Transplantation Myelodysplastic Syndromes / genetics Case Reports Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 7 DNA Repair Enzymes / genetics DNA-Binding Proteins / genetics Humans Male Survivors DNA-Binding Proteins NHEJ1 protein, human DNA Repair Enzymes Chromosome 7, monosomy
PMC9263211
35812385
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
2022