Article
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
European journal of medical genetics - 1 Nov 2018
Da Costa Lydie, O'Donohue Marie-Françoise, van Dooijeweert Birgit, Albrecht Katarzyna, Unal Sule, Ramenghi Ugo, Leblanc Thierry, Dianzani Irma, Tamary Hannah, Bartels Marije, Gleizes Pierre-Emmanuel, Wlodarski Marcin, MacInnes Alyson W
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.