{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:33:12Z","timestamp":1773419592004,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T00:00:00Z","timestamp":1713657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T00:00:00Z","timestamp":1713657600000},"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":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4\/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal\u2010onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass\u2010like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair\u2010bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4\/XPF gene mutation was detected in both siblings.<\/jats:p>","DOI":"10.1002\/pbc.30773","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T01:19:31Z","timestamp":1713748771000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two siblings with Fanconi anemia (FANCQ, ERCC4\/XPF) presenting with tumor\u2010mimicking lesions in the brain and acute neurological deterioration"],"prefix":"10.1002","volume":"71","author":[{"given":"Zeynep Canan","family":"\u00d6zdemir","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Co\u015fkun","family":"Yarar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem","family":"\u00d6ztunal\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ersin","family":"T\u00f6ret","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00fcr\u015fat Bora","family":"\u00c7arman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zcan","family":"B\u00f6r","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology Eski\u015fehir Osmangazi University Faculty of Medicine  Eki\u015fehir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92069"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11863"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.002"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2011.04.026"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcimb.2022.820273"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.02618-09"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0520-1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.20150088"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.54.9.1878\u2010a"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0000000000000511"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002228"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.05.026"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.30773","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pbc.30773","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.30773","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:23:01Z","timestamp":1773411781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.30773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,21]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/pbc.30773"],"URL":"https:\/\/doi.org\/10.1002\/pbc.30773","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,21]]},"assertion":[{"value":"2023-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e30773"}}