A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child

Abstract

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following… (More)
DOI: 10.3346/jkms.2008.23.1.142

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