Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

• Главные авторы: Lusine V. Navasardyan (Автор), Ingrid Furlan (Автор), Stephanie Brandt (Автор), Ansgar Schulz (Автор), Martin Wabitsch (Автор), Christian Denzer (Автор)
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• Опубликовано: BMC, 2023-08-01T00:00:00Z.
• Предметы: article
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Abstract Background Shwachman-Diamond syndrome (SDS) is a rare congenital disorder caused by mutations in the SBDS gene and characterized by exocrine pancreatic deficiency, hematologic dysfunction, and skeletal growth failure. Although the hematologic features and characteristics of the somatic diso...