{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:20:36Z","timestamp":1783786836600,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,21]],"date-time":"2015-11-21T00:00:00Z","timestamp":1448064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in DNA repair genes; some of these patients may have features of the VACTERL association. Autosomal recessive mutations in <jats:italic>FANCI<\/jats:italic> are a rare cause of FA. We identified <jats:italic>FANCI<\/jats:italic> mutations by next generation sequencing in three patients in our FA cohort among several whose mutated gene was unknown. Four of the six mutations are novel and all mutations are likely deleterious to protein function. There are now 16 reported cases of FA due to <jats:italic>FANCI<\/jats:italic> of whom 7 have at least 3 features of the VACTERL association (44%). This suggests that the VACTERL association in patients with FA may be seen in patients with <jats:italic>FANCI<\/jats:italic> mutations more often than previously recognized. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37461","type":"journal-article","created":{"date-parts":[[2015,11,22]],"date-time":"2015-11-22T05:07:40Z","timestamp":1448168860000},"page":"386-391","source":"Crossref","is-referenced-by-count":25,"title":["Novel <i>FANCI<\/i> mutations in Fanconi anemia with VACTERL association"],"prefix":"10.1002","volume":"170","author":[{"given":"Sharon A.","family":"Savage","sequence":"first","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bari J.","family":"Ballew","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville 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