ArticleACG case reports journal2025
Monogenic Inflammatory Bowel Disease Due to Novel SMAD7 Mutation.
Article in ACG case reports journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Very early-onset inflammatory bowel disease (IBD) has a higher proportion (10%-15%) of monogenic mutations than later onset IBD. With next-generation sequencing (NGS), newer disease-causing mutations are being revealed. We report a 4-year-old girl presenting with chronic bloody diarrhea and failure to thrive, and diagnosed as Crohn's disease. Whole-exome sequencing by NGS revealed a novel pathogenic mutation in mothers against decapentaplegic homolog 7 (SMAD7) gene. She responded to biologics. Monogenic disorders should be suspected in children with very early-onset IBD with poor response to standard immunosuppression, and NGS should be performed. SMAD7 provides a new target for in-depth research for its role in IBD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.