Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Re...
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
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Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS), critical deep-tissue infections and asphyxiating thoracic d...
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Full title
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
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TN_cdi_doaj_primary_oai_doaj_org_article_719b1d92c425419c8bcc7bba9aebe680
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_719b1d92c425419c8bcc7bba9aebe680
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ISSN
2227-9067
E-ISSN
2227-9067
DOI
10.3390/children11060705
