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

• Hauptverfasser: Danai Veltra (Verfasst von), Nikolaos M. Marinakis (Verfasst von), Ioannis Kotsios (Verfasst von), Polyxeni Delaporta (Verfasst von), Kyriaki Kekou (Verfasst von), Konstantina Kosma (Verfasst von), Joanne Traeger-Synodinos (Verfasst von), Christalena Sofocleous (Verfasst von)
• Format: Buch
• Veröffentlicht: MDPI AG, 2024-06-01T00:00:00Z.
• Schlagworte: article
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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...