Article
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
American journal of human genetics - 12 Feb 2010
Doherty Leana, Sheen Mee Rie, Vlachos Adrianna, Choesmel Valerie, O'Donohue Marie-Françoise, Clinton Catherine, Schneider Hal E, Sieff Colin A, Newburger Peter E, Ball Sarah E, Niewiadomska Edyta, Matysiak Michal, Glader Bertil, Arceci Robert J, Farrar Jason E, Atsidaftos Eva, Lipton Jeffrey M, Gleizes Pierre-Emmanuel, Gazda Hanna T
Abstract excerpt
Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb,...
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