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

• Váldodahkkit: Danai Veltra (Dahkki), Nikolaos M. Marinakis (Dahkki), Ioannis Kotsios (Dahkki), Polyxeni Delaporta (Dahkki), Kyriaki Kekou (Dahkki), Konstantina Kosma (Dahkki), Joanne Traeger-Synodinos (Dahkki), Christalena Sofocleous (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: MDPI AG, 2024-06-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...