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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Shwachman-Diamond Syndrome: Are we Missing Many?

Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. It is the most common cause of pancreatic insufficiency in children after cystic fibrosis. We report a child with classical SDS who presented to us predominantly with chronic diarrhea along with delayed growth and neutropenia.[1]


  1. Shwachman-Diamond Syndrome: Are we Missing Many? Kathuria, R., Poddar, U., Yachha, S.K. Indian. Pediatr (2012) [Pubmed]
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