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

• প্রধান লেখক: Danai Veltra (লেখক), Nikolaos M. Marinakis (লেখক), Ioannis Kotsios (লেখক), Polyxeni Delaporta (লেখক), Kyriaki Kekou (লেখক), Konstantina Kosma (লেখক), Joanne Traeger-Synodinos (লেখক), Christalena Sofocleous (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2024-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...