[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].

Abstract excerpt

OBJECTIVE: To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children. METHOD: Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed. RESULT: (1) The two cases both presented with...

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