Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 18280855.
- Also identified by DOI 10.1016/j.jpeds.2007.12.013.
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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.
Medical subject headings
- Exocrine Pancreatic Insufficiency
- Magnetic Resonance Imaging
- Mutation
- Osteochondrodysplasias
- Proteins