A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

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1. Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010;86(2):222–228. Erratum in: Am J Hum Genet. 2010;86(4):655.
2. Vlachos A, Ball S, Dahl N, et al; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859–876.

Dr. Ganapathi, Dr. Mansukhani, and Dr. Aggarwal are in the Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center (CUMC), New York. Thomsen and Dr. Bhagat are in the Department of Pathology and Cell Biology, Division of Hematopathology, CUMC and New York Presbyterian Hospital. Dr. Vossoughi is in the Department of Pathology and Cell Biology, CUMC and New York Presbyterian Hospital, and Dr. Vundavalli is in the Department of Pathology and Cell Biology, CUMC.