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

• Autori principali: Danai Veltra (Autore), Nikolaos M. Marinakis (Autore), Ioannis Kotsios (Autore), Polyxeni Delaporta (Autore), Kyriaki Kekou (Autore), Konstantina Kosma (Autore), Joanne Traeger-Synodinos (Autore), Christalena Sofocleous (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2024-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...