Congenital dyserythropoietic anemia
Definition:
References:
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[1]. Achille Iolascon, et al. Congenital dyserythropoietic anaemias: new acquisitions. Blood Transfus. 2011 Jul;9(3):278-80. [Content Brief]
[2]. Achille Iolascon, et al. Congenital dyserythropoietic anemias. Curr Opin Hematol. 2011 May;18(3):146-51. [Content Brief]
[3]. Christian Babbs, et al. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica. 2013 Sep;98(9):1383-7. [Content Brief]
[4]. Klaus Schwarz, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009 Aug;41(8):936-40. [Content Brief]
[5]. Lionel Arnaud, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet. 2010 Nov 12;87(5):721-7. [Content Brief]
[6]. Maria Liljeholm, et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013 Jun 6;121(23):4791-9. [Content Brief]
[7]. Orly Dgany, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002 Dec;71(6):1467-74. [Content Brief]
[8]. Sandeep N Wontakal, et al. RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease. Blood. 2022 Mar 3;139(9):1413-1418. [Content Brief]