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

Lee JH, Bae SH, Yu JJ, Lee R, Yun YM, Song EY

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...
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