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Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome
PURPOSE OF REVIEW: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the SBDS gene are found in the majority of patients, but the molecular function of the SBDS protein product remains unclear. He...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3485416/ https://ncbi.nlm.nih.gov/pubmed/21124213 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOH.0b013e32834114a5 |
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