title: MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Alsultan
authors.forename: Hanan E
authors.initials: HE
authors.lastname: Shamseldin
authors.forename: Mohamed Elfaki
authors.initials: ME
authors.lastname: Osman
authors.forename: Mansour
authors.initials: M
authors.lastname: Aljabri
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000740:Anemia / Q000097:blood / Q000235:genetics / Q000628:therapy; D000741:Anemia, Aplastic; D000818:Animals; D001402:B-Lymphocytes; D001803:Blood Transfusion; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D010450:Endopeptidases / Q000235:genetics; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000097:blood* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007694:Killer Cells, Natural; D007970:Leukopenia / Q000097:blood / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation; D010375:Pedigree; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*; D064570:Ubiquitin-Specific Proteases
chemical_list: D004268:DNA-Binding Proteins; C520745:MYSM1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D010450:Endopeptidases; C570173:MYSM1 protein, mouse; D064570:Ubiquitin-Specific Proteases