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Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To create an overview of the pediatric <jats:styled-content style=\"fixed-case\">DBA<\/jats:styled-content> population in the Netherlands. Methods: Forty\u2010three patients diagnosed with <jats:styled-content style=\"fixed-case\">DBA<\/jats:styled-content> from all Dutch university pediatric hospitals were included in this study, and their clinical and genetic characteristics were collected from patient records.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Congenital malformations were present in 24 of 43 patients (55.8%). An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were found in the <jats:italic><jats:styled-content style=\"fixed-case\">RPS<\/jats:styled-content>19<\/jats:italic> gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel <jats:styled-content style=\"fixed-case\">DBA<\/jats:styled-content> candidate gene, <jats:italic><jats:styled-content style=\"fixed-case\">RPL<\/jats:styled-content>9<\/jats:italic>. In 31 of 35 (88.6%) patients, an initial response to glucocorticoid treatment was observed. Six patients (14.0%) underwent hematopoietic stem cell transplantation, and eleven patients (11 of 43, 25.6%) became treatment\u2010independent spontaneously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In agreement with previous reports, the Dutch pediatric <jats:styled-content style=\"fixed-case\">DBA<\/jats:styled-content> 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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12995","type":"journal-article","created":{"date-parts":[[2017,11,8]],"date-time":"2017-11-08T02:12:39Z","timestamp":1510107159000},"page":"163-170","source":"Crossref","is-referenced-by-count":22,"title":["Pediatric Diamond\u2010Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8889-3362","authenticated-orcid":false,"given":"Birgit","family":"van Dooijeweert","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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