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

• Asıl Yazarlar: Danai Veltra (Yazar), Nikolaos M. Marinakis (Yazar), Ioannis Kotsios (Yazar), Polyxeni Delaporta (Yazar), Kyriaki Kekou (Yazar), Konstantina Kosma (Yazar), Joanne Traeger-Synodinos (Yazar), Christalena Sofocleous (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: MDPI AG, 2024-06-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...