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Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Steven J Keogh, Shane McKee, Sarah F Smithson, David Grier and Colin G Steward*

BMC Pediatrics 2012, 12:48  doi:10.1186/1471-2431-12-48

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