Somatic development in children with Shwachman-Diamond syndrome

• Main Authors: Agnieszka Bogusz-Wójcik (Author), Honorata Kołodziejczyk (Author), Maja Klaudel-Dreszler (Author), Grzegorz Oracz (Author), Joanna Pawłowska (Author), Mieczysław Szalecki (Author)
• Format: Bog
• Udgivet: BMC, 2020-10-01T00:00:00Z.
• Fag: article
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Abstract Background Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic development and short stature, but syste...