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

• Những tác giả chính: Danai Veltra (Tác giả), Nikolaos M. Marinakis (Tác giả), Ioannis Kotsios (Tác giả), Polyxeni Delaporta (Tác giả), Kyriaki Kekou (Tác giả), Konstantina Kosma (Tác giả), Joanne Traeger-Synodinos (Tác giả), Christalena Sofocleous (Tác giả)
• Định dạng: Sách
• Được phát hành: MDPI AG, 2024-06-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...