Article
Clinical and molecular variability in congenital dyserythropoietic anaemia type I.
British journal of haematology - 1 Aug 2005
Tamary Hannah, Dgany Orly, Proust Alexis, Krasnov Tatyana, Avidan Nili, Eidelitz-Markus Tal, Tchernia Gil, Geneviève David, Cormier-Daire Valérie, Bader-Meunier Brigitte, Ferrero-Vacher Corinne, Munzer Martine, Gruppo Ralph, Fibach Eithan, Konen Osnat, Yaniv Isaac, Delaunay Jean
Abstract excerpt
Congenital dyserythropoietic anaemia (CDA) type I is a rare, inherited disorder characterised by ineffective erythropoiesis and macrocytic anaemia. Complex bone disease has only occasionally been associated with this disease. CDA I is caused by mutations in the CDAN1 gene encoding for codanin-1....
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