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Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagno...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993352/ https://www.ncbi.nlm.nih.gov/pubmed/29892551 http://dx.doi.org/10.1016/j.lrr.2018.04.002 |