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

• المؤلفون الرئيسيون: Danai Veltra (مؤلف), Nikolaos M. Marinakis (مؤلف), Ioannis Kotsios (مؤلف), Polyxeni Delaporta (مؤلف), Kyriaki Kekou (مؤلف), Konstantina Kosma (مؤلف), Joanne Traeger-Synodinos (مؤلف), Christalena Sofocleous (مؤلف)
• التنسيق: كتاب
• منشور في: MDPI AG, 2024-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...