Costa, ElísioSantos, Rosário2008-02-182008-02-182008Costa, Elísio; Santos, Rosário (2008). Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–1841079-9796http://hdl.handle.net/10198/488Shwachman–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.engSBDSSBDSPShwachman-Diamond syndromeMutationsjournal article10.1016/j.bcmd.2007.07.008