Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome

Stubbins et al illustrate the power of genomics to affect clinical diagnostics and practice with the newly discovered vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, which has provided a unifying genetic diagnosis for a group of patients with a previously undiagnosed autoi...

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Veröffentlicht in:	Canadian Medical Association journal (CMAJ) 2022-04, Vol.194 (14), p.E524-E527
Hauptverfasser:	Stubbins, Ryan J, Cherniawsky, Hannah, Chen, Luke Y C, Nevill, Thomas J
Format:	Artikel
Sprache:	eng
Schlagworte:	Autoimmune diseases Bone marrow Clinical medicine Diagnosis Enzymes Fever Forecasts and trends Genetic aspects Genomes Genomics Hematology Humans Inflammatory diseases Medical genetics Medicine Methods Mutation Myelodysplastic Syndromes Patients Physicians Practice Stem cell transplantation Steroids Tuberculosis Undiagnosed Diseases Vacuoles
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