{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:42:47Z","timestamp":1789814567199,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:00:00Z","timestamp":1759017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:00:00Z","timestamp":1759017600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Fanconi anemia (FA) is a multiorgan disease caused by pathogenic variants in genes involved in the FA\/BRCA DNA repair pathway. We report a 10\u2010year\u2010old female who presented with multiple congenital anomalies consistent with VACTERL (\n                    <jats:bold>V<\/jats:bold>\n                    ertebral anomalies,\n                    <jats:bold>A<\/jats:bold>\n                    nal atresia,\n                    <jats:bold>C<\/jats:bold>\n                    ardiac anomalies,\n                    <jats:bold>T<\/jats:bold>\n                    racheoesophageal fistula,\n                    <jats:bold>E<\/jats:bold>\n                    sophageal\/duodenal atresia, and\n                    <jats:bold>R<\/jats:bold>\n                    enal and\n                    <jats:bold>L<\/jats:bold>\n                    imb anomalies) and PHENOS (abnormal\n                    <jats:bold>P<\/jats:bold>\n                    igmentation, small\n                    <jats:bold>H<\/jats:bold>\n                    ead, small\n                    <jats:bold>E<\/jats:bold>\n                    yes, central\n                    <jats:bold>N<\/jats:bold>\n                    ervous system anomalies,\n                    <jats:bold>O<\/jats:bold>\n                    tological anomalies, short\n                    <jats:bold>S<\/jats:bold>\n                    tature), and later exhibited global developmental delay. She tested positive for a de novo likely pathogenic variant in\n                    <jats:italic>RAD51<\/jats:italic>\n                    and had inconclusive chromosomal breakage studies. This case provides evidence for a common association between\n                    <jats:italic>RAD51<\/jats:italic>\n                    \u2010related FA and VACTERL and expands its genotypic and phenotypic spectra.\n                  <\/jats:p>","DOI":"10.1111\/cge.70077","type":"journal-article","created":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T04:18:30Z","timestamp":1759119510000},"page":"591-597","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>\n                      <i>RAD51<\/i>\n                    <\/scp>\n                    \u2010Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With\n                    <scp>VACTERL<\/scp>"],"prefix":"10.1111","volume":"109","author":[{"given":"Burak","family":"Altintas","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Stacy","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Gettinger","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan S.","family":"Shinawi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI185126"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI187323"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.178111"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2019.100589"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2021.279981"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11121528"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.07.009"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9829"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61130"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.6810"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37637"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a012740"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010020\u201003954\u20102"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.18091"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2015.07.002"}],"container-title":["Clinical 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