Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
Martin SchwarzMatej GazdaricaEva FroňkováMichael SvatoňJiri BronskyMarkéta HavlovicováAnna KřepelováMilan MacekPublished in: Molecular biology reports (2024)
Identifying novel variants in patients with Crohn's disease and their families is important for precision medicine approaches and understanding of the pathogenesis of likely "monogenic" rare forms of inflammatory bowel disease.