{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,22]],"date-time":"2025-11-22T13:26:03Z","timestamp":1763817963340,"version":"3.45.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T00:00:00Z","timestamp":1753488000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"sponsor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Diamond-Blackfan anemia (DBA) is a rare disease characterized by macrocytic anemia and congenital malformations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We present a familial case of DBA caused by a novel variant in the RPL11 gene. The proband was an 11-month-old Korean boy with macrocytic anemia and erythroid hypoplasia in bone marrow. He had a cleft palate and congenital heart defects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Massively parallel sequencing analysis identified a novel heterozygous variant, NM_000975.3(RPL11):c.157+1G&amp;gt;C. Laboratory investigation revealed that the father carried the same variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This report expands our understanding of the intrafamilial variability of DBA. It also highlights the importance of massively parallel sequencing in pediatric patients with anemia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmaf040","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T07:52:06Z","timestamp":1751615526000},"page":"795-798","source":"Crossref","is-referenced-by-count":0,"title":["Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the\n                    <i>RPL11<\/i>\n                    gene"],"prefix":"10.1093","volume":"56","author":[{"given":"Boram","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul ,","place":["Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul ,","place":["Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suhyeon","family":"Woo","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul ,","place":["Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keon Hee","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul ,","place":["Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee-Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul 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