Diamond-Blackfan anemia
Definition:
References:
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[1]. Adrianna Vlachos, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep;142(6):859-76. [Content Brief]
[2]. Fumika Ikeda, et al. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017 Mar;102(3):e93-e96. [Content Brief]
[3]. Hanna T Gazda, et al. Recent insights into the pathogenesis of Diamond-Blackfan anaemia. Br J Haematol. 2006 Oct;135(2):149-57. [Content Brief]
[4]. Johan Flygare, et al. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood. 2007 Apr 15;109(8):3152-4. [Content Brief]
[5]. Karen W Gripp, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Sep;164A(9):2240-9. [Content Brief]
[6]. Leana Doherty, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010 Feb 12;86(2):222-8. [Content Brief]
[7]. Lisa Mirabello, et al. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017 Jun;54(6):417-425. [Content Brief]
[8]. Lisa Mirabello, et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3;124(1):24-32. [Content Brief]
[9]. Michael Landowski, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov;132(11):1265-74. [Content Brief]
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