{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:42:47Z","timestamp":1789814567574,"version":"4.0.1"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2018YFA0107801"],"award-info":[{"award-number":["2018YFA0107801"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2019YFA0110803"],"award-info":[{"award-number":["2019YFA0110803"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500156"],"award-info":[{"award-number":["81500156"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170135"],"award-info":[{"award-number":["82170135"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.cca.2022.11.030","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T13:23:39Z","timestamp":1669901019000},"page":"41-49","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort"],"prefix":"10.1016","volume":"539","author":[{"given":"Lixian","family":"Chang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Wan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuli","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Lan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoli","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lipeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Ruan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoming","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuchun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiping","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.cca.2022.11.030_b0005","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nrm.2016.48","article-title":"The Fanconi anaemia pathway: new players and new functions","volume":"17","author":"Ceccaldi","year":"2016","journal-title":"Nat Rev Mol Cell Biol."},{"issue":"3","key":"10.1016\/j.cca.2022.11.030_b0010","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.blre.2016.10.002","article-title":"Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia","volume":"31","author":"Mamrak","year":"2017","journal-title":"Blood Rev."},{"issue":"5","key":"10.1016\/j.cca.2022.11.030_b0015","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.molcel.2017.04.022","article-title":"RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination","volume":"66","author":"Inano","year":"2017","journal-title":"Mol Cell."},{"issue":"8","key":"10.1016\/j.cca.2022.11.030_b0020","doi-asserted-by":"crossref","DOI":"10.3390\/ijms18081804","article-title":"FANCD2 and DNA Damage","volume":"18","author":"Nepal","year":"2017","journal-title":"Int J Mol Sci."},{"issue":"8","key":"10.1016\/j.cca.2022.11.030_b0025","doi-asserted-by":"crossref","first-page":"3013","DOI":"10.1172\/JCI92069","article-title":"Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia","volume":"127","author":"Knies","year":"2017","journal-title":"J Clin Invest."},{"issue":"3","key":"10.1016\/j.cca.2022.11.030_b0030","article-title":"Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis","volume":"12","author":"Parsa","year":"2022","journal-title":"Prognosis and Therapy, J Pers Med."},{"issue":"12","key":"10.1016\/j.cca.2022.11.030_b0035","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/j.trecan.2017.10.005","article-title":"Fanconi Anemia Signaling and Cancer","volume":"3","author":"Nepal","year":"2017","journal-title":"Trends Cancer."},{"issue":"3","key":"10.1016\/j.cca.2022.11.030_b0040","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nrc.2017.116","article-title":"Fanconi anaemia and cancer: an intricate relationship","volume":"18","author":"Nalepa","year":"2018","journal-title":"Nat Rev Cancer."},{"issue":"2","key":"10.1016\/j.cca.2022.11.030_b0045","doi-asserted-by":"crossref","DOI":"10.1111\/petr.12870","article-title":"Azacitidine as a bridge to allogeneic hematopoietic cell transplantation in a pediatric patient with Fanconi anemia and acute myeloid leukemia","volume":"21","author":"Ding","year":"2017","journal-title":"Pediatr Transplant."},{"issue":"4","key":"10.1016\/j.cca.2022.11.030_b0050","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.hoc.2018.04.002","article-title":"Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia","volume":"32","author":"Savage","year":"2018","journal-title":"Hematol Oncol Clin North Am."},{"issue":"20","key":"10.1016\/j.cca.2022.11.030_b0055","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1056\/NEJMra0809889","article-title":"Susceptibility pathways in Fanconi's anemia and breast cancer","volume":"362","author":"D'Andrea","year":"2010","journal-title":"N Engl J Med."},{"key":"10.1016\/j.cca.2022.11.030_b0060","doi-asserted-by":"crossref","unstructured":"K. Landelouci, S. Sinha, G. Pepin, Type-I Interferon Signaling in Fanconi Anemia, Front Cell Infect Microbiol. 12((2022) 820273.","DOI":"10.3389\/fcimb.2022.820273"},{"key":"10.1016\/j.cca.2022.11.030_b0065","doi-asserted-by":"crossref","DOI":"10.1007\/s00439-022-02462-9","article-title":"Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair","author":"Peake","year":"2022","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2022.11.030_b0070","doi-asserted-by":"crossref","unstructured":"M. O. Fiesco-Roa, N. Giri, L. J. McReynolds, A. F. Best, B. P. Alter, Genotype-phenotype associations in Fanconi anemia: A literature review, Blood Rev. 37((2019) 100589.","DOI":"10.1016\/j.blre.2019.100589"},{"key":"10.1016\/j.cca.2022.11.030_b0075","doi-asserted-by":"crossref","unstructured":"L. Chang, W. Yuan, H. Zeng, Q. Zhou, W. Wei, J. Zhou, et al., Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients, BMC Med Genomics. 7((2014) 24.","DOI":"10.1186\/1755-8794-7-24"},{"issue":"4","key":"10.1016\/j.cca.2022.11.030_b0080","doi-asserted-by":"crossref","first-page":"477","DOI":"10.24953\/turkjped.2019.04.002","article-title":"Fanconi anemia: a single center experience of a large cohort","volume":"61","author":"Kesici","year":"2019","journal-title":"Turk J Pediatr."},{"key":"10.1016\/j.cca.2022.11.030_b0085","doi-asserted-by":"crossref","DOI":"10.3324\/haematol.2021.279981","article-title":"Genotype-phenotype and outcome associations in patients with Fanconi anemia: The National Cancer Institute cohort","author":"Altintas","year":"2022","journal-title":"Haematologica"},{"issue":"3","key":"10.1016\/j.cca.2022.11.030_b0090","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/bjh.18408","article-title":"Unmanipulated haploidentical haematopoietic cell transplantation with radiation-free conditioning in Fanconi anaemia: A retrospective analysis from the Chinese Blood and Marrow Transplantation Registry Group","volume":"199","author":"Xu","year":"2022","journal-title":"Br J Haematol."},{"issue":"7","key":"10.1016\/j.cca.2022.11.030_b0095","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1177\/17531934221087521","article-title":"The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients","volume":"47","author":"Bourke","year":"2022","journal-title":"J Hand Surg Eur"},{"issue":"12","key":"10.1016\/j.cca.2022.11.030_b0100","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1002\/humu.24286","article-title":"A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects","volume":"42","author":"George","year":"2021","journal-title":"Hum Mutat."},{"issue":"7","key":"10.1016\/j.cca.2022.11.030_b0105","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.3324\/haematol.2019.222877","article-title":"Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population","volume":"105","author":"Steinberg-Shemer","year":"2020","journal-title":"Haematologica."},{"key":"10.1016\/j.cca.2022.11.030_b0110","doi-asserted-by":"crossref","unstructured":"N. Li, L. Ding, B. Li, J. Wang, A. D. D'Andrea, J. Chen, Functional analysis of Fanconi anemia mutations in China, Exp Hematol. 66((2018) 32-41.e38.","DOI":"10.1016\/j.exphem.2018.07.003"},{"issue":"1\u20132","key":"10.1016\/j.cca.2022.11.030_b0115","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.mrfmmm.2009.05.006","article-title":"Genotype-phenotype correlations in Fanconi anemia","volume":"668","author":"Neveling","year":"2009","journal-title":"Mutat Res."},{"issue":"2","key":"10.1016\/j.cca.2022.11.030_b0120","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/humu.23366","article-title":"A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families","volume":"39","author":"Kimble","year":"2018","journal-title":"Hum Mutat."},{"issue":"14","key":"10.1016\/j.cca.2022.11.030_b0125","doi-asserted-by":"crossref","first-page":"3759","DOI":"10.1182\/blood-2010-08-299917","article-title":"Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations","volume":"117","author":"Castella","year":"2011","journal-title":"Blood."},{"issue":"2","key":"10.1016\/j.cca.2022.11.030_b0130","first-page":"122","article-title":"Correlation of single-cell gel electrophoresis and mitomycin C-induced chromosomal breakage for chromosomal instabiligy in children with Fanconi anemia","volume":"51","author":"Zhang","year":"2013","journal-title":"Zhonghua Er Ke Za Zhi."},{"issue":"10","key":"10.1016\/j.cca.2022.11.030_b0135","first-page":"690","article-title":"The application of single-cell gel electrophoresis to the diagnosis of fanconi anemia","volume":"27","author":"Qi","year":"2006","journal-title":"Zhonghua Xue Ye Xue Za Zhi."},{"key":"10.1016\/j.cca.2022.11.030_b0140","doi-asserted-by":"crossref","unstructured":"W. An, J. Zhang, L. Chang, Y. Zhang, Y. Wan, Y. Ren, et al., Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing, J Hematol Oncol. 8((2015) 55.","DOI":"10.1186\/s13045-015-0154-0"},{"issue":"1","key":"10.1016\/j.cca.2022.11.030_b0145","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/BS9.0000000000000065","article-title":"Novel diagnostic approaches for Fanconi anemia (FA) by single-cell sequencing and capillary nano-immunoassay","volume":"3","author":"Chang","year":"2021","journal-title":"Blood Sci."},{"issue":"12","key":"10.1016\/j.cca.2022.11.030_b0150","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1002\/ajmg.a.35638","article-title":"Clinical geneticists' views of VACTERL\/VATER association","volume":"158A","author":"Solomon","year":"2012","journal-title":"Am J Med Genet A."},{"issue":"6","key":"10.1016\/j.cca.2022.11.030_b0155","first-page":"1520","article-title":"Thinking of VACTERL-H?","volume":"170","author":"Alter","year":"2016","journal-title":"Rule out Fanconi Anemia according to PHENOS, Am J Med Genet A."},{"issue":"1","key":"10.1016\/j.cca.2022.11.030_b0160","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.a.30853","article-title":"Should chromosome breakage studies be performed in patients with VACTERL association?","volume":"137","author":"Faivre","year":"2005","journal-title":"Am J Med Genet A."},{"issue":"3","key":"10.1016\/j.cca.2022.11.030_b0165","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/cge.12042","article-title":"FANCA and FANCG are the major Fanconi anemia genes in the Korean population","volume":"84","author":"Park","year":"2013","journal-title":"Clin Genet."},{"issue":"10","key":"10.1016\/j.cca.2022.11.030_b0170","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.3324\/haematol.2018.207241","article-title":"Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients","volume":"104","author":"Mori","year":"2019","journal-title":"Haematologica."},{"issue":"8","key":"10.1016\/j.cca.2022.11.030_b0175","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104260","article-title":"A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia","volume":"64","author":"Radulovic","year":"2021","journal-title":"Eur J Med Genet."},{"key":"10.1016\/j.cca.2022.11.030_b0180","doi-asserted-by":"crossref","unstructured":"S. Meyer, H. Neitzel, H. Tonnies, Chromosomal aberrations associated with clonal evolution and leukemic transformation in fanconi anemia: clinical and biological implications, Anemia. 2012((2012) 349837.","DOI":"10.1155\/2012\/349837"},{"issue":"1","key":"10.1016\/j.cca.2022.11.030_b0185","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1309\/AJCP7W9VMJENZOVG","article-title":"Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics","volume":"133","author":"Cioc","year":"2010","journal-title":"Am J Clin Pathol."},{"key":"10.1016\/j.cca.2022.11.030_b0190","doi-asserted-by":"crossref","unstructured":"A. Rochowski, S. B. Olson, T. A. Alonzo, R. B. Gerbing, B. J. Lange, B. P. Alter, Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML, Pediatr Blood Cancer. 59(5) (2012) 922-924.","DOI":"10.1002\/pbc.24168"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122013973?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122013973?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:07:27Z","timestamp":1757862447000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898122013973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":38,"alternative-id":["S0009898122013973"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2022.11.030","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2022.11.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}