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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Huvudupphovsmän: Andolina, Jeffrey R., Morrison, Colleen B., Thompson, Alexis A., Chaudhury, Sonali, Mack, A. Kyle, Proytcheva, Maria, Corey, Seth J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar: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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