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

• Autores principales: Danai Veltra (Autor), Nikolaos M. Marinakis (Autor), Ioannis Kotsios (Autor), Polyxeni Delaporta (Autor), Kyriaki Kekou (Autor), Konstantina Kosma (Autor), Joanne Traeger-Synodinos (Autor), Christalena Sofocleous (Autor)
• Formato: Libro
• Publicado: MDPI AG, 2024-06-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...