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

• Prif Awduron: Danai Veltra (Awdur), Nikolaos M. Marinakis (Awdur), Ioannis Kotsios (Awdur), Polyxeni Delaporta (Awdur), Kyriaki Kekou (Awdur), Konstantina Kosma (Awdur), Joanne Traeger-Synodinos (Awdur), Christalena Sofocleous (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2024-06-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...