{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T22:18:14Z","timestamp":1785881894831,"version":"3.56.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T00:00:00Z","timestamp":1674086400000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fanconi anemia, FA, is a rare, multi\u2010system disease caused by pathogenic variants in DNA repair genes. We report a novel\n                    <jats:italic>RAD51<\/jats:italic>\n                    variant in an infant with FA whose tracheobronchomalacia has not been described in FA. His severe presentation expands the phenotype of\n                    <jats:italic>RAD51<\/jats:italic>\n                    \u2010associated FA, reported only in three patients previously.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.6810","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T08:59:36Z","timestamp":1674118776000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel\n                    <i>RAD51<\/i>\n                    variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6856-7669","authenticated-orcid":false,"given":"Shelby","family":"Geilmann","sequence":"first","affiliation":[{"name":"School of Medicine University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Solstad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Palmquist","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"},{"name":"Center for Personalized Medicine Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9548-4188","authenticated-orcid":false,"given":"Josue","family":"Flores Daboub","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo D.","family":"Botto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Grubb","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8775-147X","authenticated-orcid":false,"given":"Josh L.","family":"Bonkowsky","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"},{"name":"Center for Personalized Medicine Primary Children's Hospital  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Malone Jenkins","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine Primary Children's Hospital  Salt Lake City Utah USA"},{"name":"Division of Neonatology, Department of Pediatrics University of Utah School of Medicine  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,19]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"GeneReviews [Internet]","author":"Mehta PA","year":"2021"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9829"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.07.009"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61130"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11050585"},{"key":"e_1_2_9_7_1","unstructured":"National Center for Biotechnology Information.ClinVar[VCV000372139.6]. Last updated February 19 2022. Accessed April 10 2022.https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000372139.6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2019.100589"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3546"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6810","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6810","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6810","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T14:12:12Z","timestamp":1764252732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ccr3.6810"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6810","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"2022-08-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6810"}}