Researchers' Work from National and Kapodistrian University of Athens Focuses on Shwachman-Diamond Syndrome (Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a...).

A recent study conducted by researchers from the National and Kapodistrian University of Athens focuses on Shwachman-Diamond Syndrome (SDS), a multi-system disease characterized by exocrine pancreatic insufficiency, infantile neutropenia, and aplastic anemia. The study highlights the life-threatening complications associated with SDS, such as acute myeloid leukemia, deep-tissue infections, and thoracic dystrophy. The researchers also discuss the genetic variants and phenotypes associated with SDS, emphasizing the importance of data sharing and collaboration in advancing our understanding of the disease. The study provides valuable insights for informed clinical decisions and disease management. [Extracted from the article]