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Shwachman-Diamond syndrome: diarrhea, no longer required?
Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond Syndrome (SDS). We report two cases of genetically-confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, whil...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3514592/ https://ncbi.nlm.nih.gov/pubmed/22935661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPH.0b013e3182667c13 |
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