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Authors
Advisor(s)
Abstract(s)
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow
dysfunction, and skeletal abnormalities. The Shwachman–Bodian–Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in
2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been
described. In this report, a summary of documented SDS associated mutations is provided.
Description
Keywords
SBDS SBDSP Shwachman-Diamond syndrome Mutations
Citation
Costa, Elísio; Santos, Rosário (2008). Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–184
Publisher
Elsevier