Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4167817 | The Journal of Pediatrics | 2008 | 5 Pages |
Abstract
Pancreatic MRI was evaluated in 14 patients with a clinical diagnosis of Shwachman-Diamond syndrome, and the findings were correlated with Shwachman-Bodian-Diamond gene (SBDS) genotype. The findings suggest that patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern.
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Authors
Sanna MD, Merja MD, Peter R. MD, FRCPC, Wan MSc, Eino MD, PhD, Erkki MD, PhD, Outi MD, PhD,