A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.
Farzaneh MotallebiZainab M Al SudaniFatemeh VaghefiTeymoor KhosraviArian RahimzadehAli KowsariMorteza OladnabiPublished in: Molecular biology reports (2024)
The identification of this novel genetic variant as a causative factor for IOIBD highlights the clinical value of utilizing genetic testing, such as WES, as a reliable diagnostic approach for patients affected by this condition.
Keyphrases
- molecular docking
- end stage renal disease
- ejection fraction
- genome wide
- newly diagnosed
- copy number
- chronic kidney disease
- molecular dynamics simulations
- peritoneal dialysis
- prognostic factors
- case report
- intellectual disability
- dna methylation
- autism spectrum disorder
- patient reported outcomes
- bioinformatics analysis
- ulcerative colitis
- genome wide identification