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

• Үндсэн зохиолчид: Danai Veltra (Зохиогч), Nikolaos M. Marinakis (Зохиогч), Ioannis Kotsios (Зохиогч), Polyxeni Delaporta (Зохиогч), Kyriaki Kekou (Зохиогч), Konstantina Kosma (Зохиогч), Joanne Traeger-Synodinos (Зохиогч), Christalena Sofocleous (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2024-06-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...