Article
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Human genetics - 1 Nov 2013
Landowski Michael, O'Donohue Marie-Françoise, Buros Christopher, Ghazvinian Roxanne, Montel-Lehry Nathalie, Vlachos Adrianna, Sieff Colin A, Newburger Peter E, Niewiadomska Edyta, Matysiak Michal, Glader Bertil, Atsidaftos Eva, Lipton Jeffrey M, Beggs Alan H, Gleizes Pierre-Emmanuel, Gazda Hanna T
Abstract excerpt
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retardation and craniofacial, upper limb, heart and urinary system congenital malformations in ~30-50 %...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.