{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:17:20Z","timestamp":1782145040803,"version":"3.54.5"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"am","delay-in-days":308,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109268"],"award-info":[{"award-number":["JP19ek0109268"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012351","name":"Mitsubishi Tanabe Pharma Corporation","doi-asserted-by":"publisher","award":["MTPS20170620009"],"award-info":[{"award-number":["MTPS20170620009"]}],"id":[{"id":"10.13039\/501100012351","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Early Human Development"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.earlhumdev.2025.106287","type":"journal-article","created":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T11:10:42Z","timestamp":1747912242000},"page":"106287","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants"],"prefix":"10.1016","volume":"207","author":[{"given":"Masahiko","family":"Ikeda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutoshi","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Furuse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Onda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Ando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Kaneshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.earlhumdev.2025.106287_bb0005","doi-asserted-by":"crossref","first-page":"563","DOI":"10.3390\/genes14030563","article-title":"Prenatal detection of a FOXF1 deletion in a fetus with ACDMPV and hydronephrosis","volume":"14","author":"Bzd\u0119ga","year":"2023","journal-title":"Genes"},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0010","doi-asserted-by":"crossref","DOI":"10.1177\/2045894018795143","article-title":"Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects","volume":"8","author":"Slot","year":"2018","journal-title":"Pulm. Circ."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0015","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1164\/rccm.201903-0495TR","article-title":"Clinical, histopathological, and molecular diagnostics in lethal lung developmental disorders","volume":"200","author":"Vincent","year":"2019","journal-title":"Am. J. Resp. Crit. Care Med."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0020","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1164\/rccm.201010-1697CI","article-title":"Alveolar capillary dysplasia","volume":"184","author":"Bishop","year":"2011","journal-title":"Am. J. Resp. Crit. Care Med."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0025","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jpeds.2017.10.026","article-title":"Infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins who underwent bilateral lung transplantation","volume":"194","author":"Towe","year":"2018","journal-title":"J. Pediatr."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0030","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.jpeds.2004.06.081","article-title":"Expanding the phenotype of alveolar capillary dysplasia (ACD)","volume":"145","author":"Sen","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0035","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/ccr3.888","article-title":"Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia","volume":"5","author":"Goel","year":"2017","journal-title":"Clin. Case Rep."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0040","doi-asserted-by":"crossref","DOI":"10.1016\/j.earlhumdev.2021.105323","article-title":"Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: the roles of clinical, pathological, and genetic testing","volume":"155","author":"Onda","year":"2021","journal-title":"Early Hum. Dev."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0045","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s00439-016-1655-9","article-title":"Prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins","volume":"135","author":"Prothro","year":"2016","journal-title":"Hum. Genet."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0050","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/pr.2014.114","article-title":"Hereditary interstitial lung diseases manifesting in early childhood in Japan","volume":"76","author":"Akimoto","year":"2014","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0055","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/pr.2017.217","article-title":"Genetic basis for childhood interstitial lung disease among Japanese infants and children","volume":"83","author":"Hayasaka","year":"2018","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0060","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0065","unstructured":"PolyPhen-2, PolyPhen-2 home page, http:\/\/genetics.bwh.harvard.edu\/pph2\/."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0070","unstructured":"Mutation Taster, Newer versions of MutationTaster, http:\/\/www.mutationtaster.org."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0075","unstructured":"Mutation@A Glance, Mutation@A Glance home page, https:\/\/mutation.nagahama-i-bio.ac.jp."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0080","unstructured":"IGSR, The international genome sample resource home page, https:\/\/www.internationalgenome.org."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0085","unstructured":"gnomAD, Genome aggregation database. https:\/\/gnomad.broadinstitute.org."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0090","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.3390\/ijms13033245","article-title":"Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases","volume":"13","author":"Stuppia","year":"2012","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0095","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/s00431-015-2543-3","article-title":"A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins","volume":"174","author":"Ito","year":"2015","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0100","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1002\/humu.22313","article-title":"Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain","volume":"34","author":"Sen","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0105","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1101\/gr.141887.112","article-title":"Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder","volume":"23","author":"Szafranski","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0110","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/s13000-020-00972-6","article-title":"A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation","volume":"15","author":"Kitano","year":"2020","journal-title":"Diagn. Pathol."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0115","doi-asserted-by":"crossref","first-page":"5002","DOI":"10.1002\/j.1460-2075.1994.tb06827.x","article-title":"Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending","volume":"13","author":"Pierrou","year":"1994","journal-title":"EMBO J."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0120","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2009.05.005","article-title":"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations","volume":"84","author":"Stankiewicz","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0125","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.64056","article-title":"Familial alveolar capillary dysplasia with misalignment of pulmonary veins caused by paternal FOXF1 upstream enhancer deletion: a case report","author":"Kawasaki","year":"2025","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.earlhumdev.2025.106287_bb0130","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2062","article-title":"High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV","volume":"10","author":"Y\u0131ld\u0131z B\u00f6l\u00fckba\u015f\u0131","year":"2022","journal-title":"Mol. Genet. Genomic Med."}],"container-title":["Early Human Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378378225000970?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378378225000970?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T11:37:31Z","timestamp":1754480251000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378378225000970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":26,"alternative-id":["S0378378225000970"],"URL":"https:\/\/doi.org\/10.1016\/j.earlhumdev.2025.106287","relation":{},"ISSN":["0378-3782"],"issn-type":[{"value":"0378-3782","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants","name":"articletitle","label":"Article Title"},{"value":"Early Human Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.earlhumdev.2025.106287","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"106287"}}