{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T18:38:27Z","timestamp":1789583907629,"version":"build-2803163510"},"reference-count":38,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:00:00Z","timestamp":1753315200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background: Fanconi Anemia (FA) is a rare disorder, characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. FA is caused by pathogenic variants in any of the 23 (FANCA-FANCY) linked genes. Procedure: Retrospective analysis of 13 FA patients with a causative variant was performed. Patients (6 boys and 7 girls) aged from 9 to 26 years old, (mean age of 7.3 years), at diagnosis. Results: Phenotype evaluation demonstrated in 11\/13 patients\u2019 congenital anomalies, with pigmentary changes and short stature, present in 90% of cases. Hematological abnormalities were present in 10\/11 patients, with thrombocytopenia being the prominent finding. Genetic analysis for the most common complementation group FA-A revealed that 12\/13 patients belonged to this group and only one patient was found to be FA-E. Exon deletions, single nucleotide variations, and duplications were identified. Familial patterns, due to consanguinity, were evident in one case. Twelve patients underwent hematopoietic stem cell transplantation (HSCT), with variable pre-HSCT supportive treatments. Post-HSCT data showed that 9 out of 10 patients for whom follow up data was available, survived for a median time of 5.4 years. Complications like acute graft-versus-host disease were noted. Conclusions: Our study highlights the importance of genotype towards tailored monitoring for children and families with FA.<\/jats:p>","DOI":"10.3390\/children12080973","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T11:58:53Z","timestamp":1753358333000},"page":"973","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients"],"prefix":"10.3390","volume":"12","author":[{"given":"Simoni","family":"Saranti","sequence":"first","affiliation":[{"name":"Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, \u201cP&A Kyriakou\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikoletta","family":"Selenti","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, \u201cAgia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3205-4287","authenticated-orcid":false,"given":"Christalena","family":"Sofocleous","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, \u201cAgia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1860-5628","authenticated-orcid":false,"given":"Joanne","family":"Traeger-Synodinos","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, \u201cAgia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5178-0655","authenticated-orcid":false,"given":"Antonis","family":"Kattamis","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1821-7799","authenticated-orcid":false,"given":"Vassilios","family":"Papadakis","sequence":"additional","affiliation":[{"name":"Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), \u201cAgia Sofia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenios","family":"Goussetis","sequence":"additional","affiliation":[{"name":"Stem Cell Transplant Unit, \u201cAgia Sofia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charikleia","family":"Kelaidi","sequence":"additional","affiliation":[{"name":"Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), \u201cAgia Sofia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Paisiou","sequence":"additional","affiliation":[{"name":"Stem Cell Transplant Unit, \u201cAgia Sofia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9716-9264","authenticated-orcid":false,"given":"Sophia","family":"Polychronopoulou","sequence":"additional","affiliation":[{"name":"Marianna V. Vardinoyanni-ELPIDA Oncology Unit, Department of Pediatric Hematology-Oncology (TAO), \u201cAgia Sofia\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia","family":"Kossiva","sequence":"additional","affiliation":[{"name":"Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, \u201cP&A Kyriakou\u201d Children\u2019s Hospital, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1038\/nrc2009","article-title":"Guido Fanconi (1892\u20131979): A jack of all trades","volume":"6","author":"Lobitz","year":"2006","journal-title":"Nat. Rev. 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