{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:04:40Z","timestamp":1790708680490,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T00:00:00Z","timestamp":1777766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T00:00:00Z","timestamp":1777766400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the\n                    <jats:italic>XRCC2<\/jats:italic>\n                    gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long\u2010term follow\u2010up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in\n                    <jats:italic>XRCC2<\/jats:italic>\n                    . Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20\u2009years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in\n                    <jats:italic>XRRC2<\/jats:italic>\n                    causes a distinctive FA\u2010like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70171","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T03:26:41Z","timestamp":1777865201000},"page":"2331-2337","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>The Homozygous<\/scp>\n                    p.(\n                    <scp>Arg215Ter<\/scp>\n                    )\n                    <scp>Variant in<\/scp>\n                    <i>XRCC2<\/i>\n                    <scp>Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood<\/scp>"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1413-4371","authenticated-orcid":false,"given":"Sabina","family":"Cenciarelli","sequence":"first","affiliation":[{"name":"Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute  Milan Italy"},{"name":"Vita\u2010Salute San Raffaele University  Milan Italy"},{"name":"Department of Biomedicine and Prevention, PhD in Immunology, Molecular Medicine and Applied Biotechnology University of Rome Tor Vergata  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia Bruna","family":"Marchetti","sequence":"additional","affiliation":[{"name":"Medical Genetics Universit\u00e0 Degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-212X","authenticated-orcid":false,"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Patricelli","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, San Raffaele Scientific Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Giangiobbe","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, San Raffaele Scientific Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella Cinzia","family":"Pozzobon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics San Raffaele Scientific Institute  Milan 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Raffaele Scientific Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ferrua","sequence":"additional","affiliation":[{"name":"Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-6548","authenticated-orcid":false,"given":"Angela","family":"Peron","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Meyer Children's Hospital IRCCS  Florence Italy"},{"name":"Department of Experimental and Clinical Biomedical Sciences \u201cMario Serio\u201d Universit\u00e0 Degli Studi di Firenze  Florence 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