{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:23:23Z","timestamp":1780327403314,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by pancytopenia, increased susceptibility to malignancies, and a spectrum of congenital anomalies. Here, we report on eight affected individuals from six unrelated families with a large Alu\u2010mediated intragenic deletion encompassing exons 6\u201331 in the\n                    <jats:italic>FANCA<\/jats:italic>\n                    gene, identified as a founder mutation in the Turkish population through haplotype analysis. This deletion, mediated by Alu repeat sequences, underscores the role of repetitive elements in FA pathogenesis. Clinical data revealed variable phenotypic presentations among affected individuals, highlighting the challenge of establishing genotype\u2013phenotype correlations even in the presence of identical\n                    <jats:italic>FANCA<\/jats:italic>\n                    pathogenic variants. We carried out an easy and effective PCR\u2010based diagnostic test for detecting this mutation, enabling precise diagnosis and genetic counseling for affected individuals and their families. This study provides valuable insights into the molecular mechanisms underlying FA pathogenesis and offers a practical approach for genetic diagnosis in affected individuals, particularly those of Turkish descent.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63945","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T04:26:49Z","timestamp":1733200009000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Alu\u2010Mediated Deletion of\n                    <scp>\n                      <i>FANCA<\/i>\n                    <\/scp>\n                    in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6054-0709","authenticated-orcid":false,"given":"Ceren Damla","family":"Durmaz","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"G\u00fcmr\u00fck","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Research Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiraje","family":"Celkan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Faculty of Medicine Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Unal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Research Center for Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arda","family":"\u00c7etinkaya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Hacettepe University  Ankara 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