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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...

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Detalles Bibliográficos
Autores principales: Ong, Shin Yeu, Li, Shao-Tzu, Wong, Gee Chuan, Ho, Aloysius Yew Leng, Nagarajan, Chandramouli, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
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