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

• Главные авторы: Danai Veltra (Автор), Nikolaos M. Marinakis (Автор), Ioannis Kotsios (Автор), Polyxeni Delaporta (Автор), Kyriaki Kekou (Автор), Konstantina Kosma (Автор), Joanne Traeger-Synodinos (Автор), Christalena Sofocleous (Автор)
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• Опубликовано: MDPI AG, 2024-06-01T00:00:00Z.
• Предметы: 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...