Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
Birgit van DooijeweertC Heleen van OmmenFrans J SmiersRienk Y J TammingaMaroeska W Te LooAlbertine E DonkerMarjolein PetersBernd GranzenHans J J P GilleMarc B BieringsAlyson W MacInnesMarije BartelsPublished in: European journal of haematology (2017)
In agreement with previous reports, the Dutch pediatric DBA population is both clinically and genetically heterogeneous. National and international registries, together with more extensive genetic testing, are crucial to increase our understanding of genotype and phenotype correlations of this intriguing disorder.