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

• 主要な著者: Danai Veltra (著者), Nikolaos M. Marinakis (著者), Ioannis Kotsios (著者), Polyxeni Delaporta (著者), Kyriaki Kekou (著者), Konstantina Kosma (著者), Joanne Traeger-Synodinos (著者), Christalena Sofocleous (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2024-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...