Original paper
Shwachman-Diamond syndrome : Clinical, genetic and radiological study
Published: Oct 10, 2008
Abstract
9 Conclusions: This study expanded the phenotypic features of SDS to include primary low-turnover osteoporosis and structural alterations in the brain. Pancreatic MRI showed characteristic changes in the SBDS mutation-positive patients while these were absent in the mutation-negative patients, suggesting that MRI can be used to differentiate patients harboring SBDS mutations from those without mutations. No evidence for clinical cardiac...
Paper Details
Title
Shwachman-Diamond syndrome : Clinical, genetic and radiological study
Published Date
Oct 10, 2008
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Notes
History