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

• मुख्य लेखकों: Danai Veltra (लेखक), Nikolaos M. Marinakis (लेखक), Ioannis Kotsios (लेखक), Polyxeni Delaporta (लेखक), Kyriaki Kekou (लेखक), Konstantina Kosma (लेखक), Joanne Traeger-Synodinos (लेखक), Christalena Sofocleous (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2024-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...