{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:51:42Z","timestamp":1791345102846,"version":"4.3.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:00:00Z","timestamp":1791244800000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":["eJHaem"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Fanconi anemia (FA) is a genetically heterogeneous disorder of chromosome instability leading to bone marrow failure (BMF) and other manifestations. We report a case of FA in which two atypical features initially obscured the diagnosis: the presence of T cell\u2010mediated thrombocytopenia, and somatic mosaicism leading to normal chromosome breakage studies in blood. The diagnosis was ultimately established after trio exome sequencing identified biallelic variants in\n                    <jats:italic>UBE2T<\/jats:italic>\n                    , consistent with one of the rarest FA subtypes. This case adds to sparse literature on\n                    <jats:italic>UBE2T<\/jats:italic>\n                    \u2010FA and immune cytopenias in FA, and highlights the role of genomic testing in the diagnostic evaluation of BMF.\n                  <\/jats:p>","DOI":"10.1002\/jha2.70394","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:24:16Z","timestamp":1791343456000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical Presentation of\n                    <i>UBE2T<\/i>\n                    \u2010Related Fanconi Anemia With Immune\u2010Mediated Thrombocytopenia and Hematopoietic Somatic Mosaicism: A Case Report"],"prefix":"10.1002","volume":"7","author":[{"given":"Bridget T.","family":"Kiely","sequence":"first","affiliation":[{"name":"Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison A.","family":"Bertuch","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Molecular and Human Genetics Baylor College of Medicine Hematology Center Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,6]]},"reference":[{"key":"e_1_2_13_2_1","volume-title":"GeneReviews","author":"Mehta P. 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H.","year":"2021","journal-title":"Clinical Cancer Research"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jha2.70394","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:24:23Z","timestamp":1791343463000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.70394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/jha2.70394"],"URL":"https:\/\/doi.org\/10.1002\/jha2.70394","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"value":"2688-6146","type":"print"},{"value":"2688-6146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"2026-07-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70394"}}