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

• Auteurs principaux: Danai Veltra (Auteur), Nikolaos M. Marinakis (Auteur), Ioannis Kotsios (Auteur), Polyxeni Delaporta (Auteur), Kyriaki Kekou (Auteur), Konstantina Kosma (Auteur), Joanne Traeger-Synodinos (Auteur), Christalena Sofocleous (Auteur)
• Format: Livre
• Publié: MDPI AG, 2024-06-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...