Demonstrates primary bile acid malabsorption in children with IBD-like features, suggesting targeted genetic testing.
Lay summary We describe biochemically and functionally validated primary bile acid malabsorption caused by novel biallelic SLC10A2 variants in a child initially diagnosed with Crohn’s disease. Pediatric IBD cohort reanalysis identified PBAM-compatible genotypes, supporting selective testing when clinical features are suggestive.
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Johnson et al. (2026) studied this question.
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