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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Publicado en: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: 2016
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Article
Acceso en liña: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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