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

• Príomhchruthaitheoirí: Danai Veltra (Údar), Nikolaos M. Marinakis (Údar), Ioannis Kotsios (Údar), Polyxeni Delaporta (Údar), Kyriaki Kekou (Údar), Konstantina Kosma (Údar), Joanne Traeger-Synodinos (Údar), Christalena Sofocleous (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: MDPI AG, 2024-06-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...