{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:01:25Z","timestamp":1767135685698,"version":"build-2238731810"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T00:00:00Z","timestamp":1715990400000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>\n                      We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA\/p.Lys219fs (rs587776650) in the\n                      <jats:italic>NBN<\/jats:italic>\n                      gene through whole exome sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdr2.2346","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T04:18:16Z","timestamp":1716005896000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7222-0377","authenticated-orcid":false,"given":"Gunes","family":"Cakmak Genc","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Zonguldak B\u00fclent Ecevit University Zonguldak  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Busra","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Zonguldak B\u00fclent Ecevit University Zonguldak  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0505-7850","authenticated-orcid":false,"given":"Sevim","family":"Karakas Celik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Zonguldak B\u00fclent Ecevit University Zonguldak  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5178-7403","authenticated-orcid":false,"given":"Cumhur","family":"Aydemir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Zonguldak B\u00fclent Ecevit University Zonguldak  Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Recep","family":"Eroz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine D\u00fczce University  Duzce Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Dursun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Zonguldak B\u00fclent Ecevit University Zonguldak  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