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Irish Child Health Database - Peer Reviewed Papers

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Growth Disorders/ etiology/pathology/therapy

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• 1.   Shwachman-Diamond syndrome

  This article discusses Shwachman-Diamond syndrome

  

  Abstract:

  Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. Additional clinical features include metaphyseal dysostosis, epiphyseal dysplasia, immune dysfunction, liver disease, growth failure, renal tubular more...

  Geography:

  Republic of Ireland

  Semin Hematol, Vol: 39 Page: 95-102 April 2002
  O. P. Smith

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