{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:39:15Z","timestamp":1787243955216,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T00:00:00Z","timestamp":1514332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"C17 Research Network"},{"DOI":"10.13039\/501100000024","name":"Canadian Institute of Health Research","doi-asserted-by":"crossref","award":["RN172029 - 286737"],"award-info":[{"award-number":["RN172029 - 286737"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Diamond Blackfan Anemia Canada"},{"DOI":"10.13039\/100001422","name":"American Society for Hematology","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001422","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>\n                    Diamond\u2010Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy\u2010four patients with DBA from across Canada were included. Nucleotide\u2010level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The\n                    <jats:italic>RPS19<\/jats:italic>\n                    mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups. Patients with\n                    <jats:italic>RPS19<\/jats:italic>\n                    mutations, however, were more likely to maintain long\u2010term corticosteroid response without requirement for further chronic transfusions. Conversely, patients with\n                    <jats:italic>RPL11<\/jats:italic>\n                    mutations were less likely to need chronic treatment. Birth defects, including cardiac, skeletal, hand, cleft lip or palate and genitourinary malformations, also varied among the various genetic groups. Patients with\n                    <jats:italic>RPS19<\/jats:italic>\n                    mutations had the fewest number of defects, while patients with\n                    <jats:italic>RPL5<\/jats:italic>\n                    had the greatest number of birth defects. This is the first study to show differences between DBA genetic groups with regards to treatment. Previously unreported differences in the rate and types of birth defects were also identified. These data allow better patient counseling, a more personalized monitoring plan, and may also suggest differential functions of DBA genes on ribosome and extra\u2010ribosomal functions.\n                  <\/jats:p>","DOI":"10.1111\/cge.13158","type":"journal-article","created":{"date-parts":[[2017,10,16]],"date-time":"2017-10-16T16:05:00Z","timestamp":1508169900000},"page":"320-328","source":"Crossref","is-referenced-by-count":35,"title":["Molecular analysis and genotype\u2010phenotype correlation of Diamond\u2010Blackfan anemia"],"prefix":"10.1111","volume":"93","author":[{"given":"O.A.","family":"Arbiv","sequence":"first","affiliation":[{"name":"Program in Genetics and Genome Biology, Research Institute The Hospital for Sick Children  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cuvelier","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology CancerCare Manitoba  Winnipeg 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