[Shwachman-Diamond syndrome: clinical manifestations and molecular genetics].

Abstract excerpt

The Shwachman-Diamond syndrome is a rare, autosomal recessive primary immunodeficiency disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, short stature, bone marrow dysfunction and recurrent infections. The authors summarize current knowledge on molecular pathomechanisms, diagnostic criteria, therapy, and clinical manifestations of the syndrome. They present the first Hungarian...

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