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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang: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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