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

• Päätekijät: Danai Veltra (Tekijä), Nikolaos M. Marinakis (Tekijä), Ioannis Kotsios (Tekijä), Polyxeni Delaporta (Tekijä), Kyriaki Kekou (Tekijä), Konstantina Kosma (Tekijä), Joanne Traeger-Synodinos (Tekijä), Christalena Sofocleous (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: MDPI AG, 2024-06-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...