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

• Κύριοι συγγραφείς: Danai Veltra (Συγγραφέας), Nikolaos M. Marinakis (Συγγραφέας), Ioannis Kotsios (Συγγραφέας), Polyxeni Delaporta (Συγγραφέας), Kyriaki Kekou (Συγγραφέας), Konstantina Kosma (Συγγραφέας), Joanne Traeger-Synodinos (Συγγραφέας), Christalena Sofocleous (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: MDPI AG, 2024-06-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο 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...