dc.contributor.author | Gokce, Muge | |
dc.contributor.author | Tuncer, Murat | |
dc.contributor.author | Cetin, Mualla | |
dc.contributor.author | Gumruk, Fatma | |
dc.date.accessioned | 2019-12-10T10:41:09Z | |
dc.date.available | 2019-12-10T10:41:09Z | |
dc.date.issued | 2013 | |
dc.identifier.issn | 0971-4502 | |
dc.identifier.uri | https://doi.org/10.1007/s12288-012-0163-x | |
dc.identifier.uri | http://hdl.handle.net/11655/14165 | |
dc.description.abstract | A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings. The diagnosis was confirmed by sequence analysis for SBDS gene on chromosome seven revealing compound heterozygous mutation, which are c.258+2T-C and c.183-184TA-CT. Matched unrelated donor screening for hematopoietic stem cell transplantation was initiated. Unfortunately, he died of respiratory difficulty at 5 months of age. Our case is the youngest patient whose presumptive Shwachman-Diamond syndrome diagnosis was confirmed by molecular analysis. | |
dc.language.iso | en | |
dc.publisher | Springer India | |
dc.relation.isversionof | 10.1007/s12288-012-0163-x | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Hematology | |
dc.title | Molecular Diagnosis Of Shwachman-Diamond Syndrome Presenting With Pancytopenia At An Early Age: The First Report From Turkey | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Indian Journal Of Hematology And Blood Transfusion | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 29 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 161 | |
dc.identifier.endpage | 163 | |
dc.description.index | WoS | |