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

• Main Authors: Danai Veltra (Author), Nikolaos M. Marinakis (Author), Ioannis Kotsios (Author), Polyxeni Delaporta (Author), Kyriaki Kekou (Author), Konstantina Kosma (Author), Joanne Traeger-Synodinos (Author), Christalena Sofocleous (Author)
• Format: Bog
• Udgivet: MDPI AG, 2024-06-01T00:00:00Z.
• Fag: 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...