Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was establ...

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Detalhes bibliográficos
Publicado no:J Pediatr Hematol Oncol
Main Authors: Steinberg-Shemer, Orna, Keel, Siobán, Dgany, Orly, Walsh, Tom, Noy-Lotan, Sharon, Krasnov, Tanya, Yacobovich, Joanne, Quarello, Paola, Ramenghi, Ugo, King, Mary-Claire, Shimamura, Akiko, Tamary, Hannah
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5033710/
https://ncbi.nlm.nih.gov/pubmed/27258031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPH.0000000000000587
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