{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T14:12:57Z","timestamp":1769091177493,"version":"3.49.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T00:00:00Z","timestamp":1735516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heliyon"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1016\/j.heliyon.2024.e41591","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T20:41:10Z","timestamp":1736455270000},"page":"e41591","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unveiling the prenatal features of HADDS: A case report and literature review"],"prefix":"10.1016","volume":"11","author":[{"given":"Lina","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongzhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.heliyon.2024.e41591_bib1","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ajhg.2016.11.020","article-title":"De novo mutations in EBF3 cause a neurodevelopmental syndrome","volume":"100","author":"Sleven","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib2","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.ajhg.2016.11.018","article-title":"A syndromic neurodevelopmental disorder caused by de novo variants in EBF3","volume":"100","author":"Chao","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib3","volume":"vol. 3","author":"Tanaka","year":"2017"},{"key":"10.1016\/j.heliyon.2024.e41591_bib4","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000513583","article-title":"Neuroimaging findings in patients with EBF3 mutations: report of two cases","volume":"12","author":"Mar","year":"2021","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.heliyon.2024.e41591_bib5","doi-asserted-by":"crossref","first-page":"a001743","DOI":"10.1101\/mcs.a001743","article-title":"Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases","volume":"3","author":"Blackburn","year":"2017","journal-title":"Mol. Case Stud."},{"key":"10.1016\/j.heliyon.2024.e41591_bib6","article-title":"A Novel de novo Mutation in EBF3 Associated with Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy","volume":"12","author":"Huang","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib7","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1091532","article-title":"Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients","volume":"11","author":"Zhu","year":"2023","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.heliyon.2024.e41591_bib8","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/uog.26178","article-title":"Congenital hypotonia: systematic approach for prenatal detection","volume":"62","author":"Weissbach","year":"2023","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.heliyon.2024.e41591_bib9","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2017.00143","article-title":"Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease","volume":"8","author":"Lopes","year":"2017","journal-title":"Front. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib10","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.3390\/genes12101513","article-title":"Expanding the neurological phenotype of ring chromosome 10 syndrome: a case report and review of the literature","volume":"12","author":"Pruccoli","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.heliyon.2024.e41591_bib11","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ajmg.a.37448","article-title":"Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology?","volume":"170A","author":"Faria","year":"2016","journal-title":"Am. J. Med. Genet. Part A."},{"key":"10.1016\/j.heliyon.2024.e41591_bib12","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200049","article-title":"Neurologic, neuropsychologic, and neuroradiologic features of EBF3-related syndrome","volume":"9","author":"Ciaccio","year":"2023","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib13","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1212\/WNL.0000000000009486","article-title":"TUDP Study Group: abnormal cerebellar foliation in EBF3 mutation","volume":"94","author":"D'Arrigo","year":"2020","journal-title":"Neurology"},{"key":"10.1016\/j.heliyon.2024.e41591_bib14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ajhg.2016.11.012","article-title":"Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism","volume":"100","author":"Harms","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib15","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ana.26359","article-title":"An integrated phenotypic and genotypic approach reveals a high\u2010risk subtype association for EBF3 missense variants affecting the zinc finger domain","volume":"92","author":"Deisseroth","year":"2022","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.heliyon.2024.e41591_bib16","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.bbrc.2017.11.021","article-title":"A Prdm8 target gene Ebf3 regulates multipolar-to-bipolar transition in migrating neocortical cells","volume":"495","author":"Iwai","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.heliyon.2024.e41591_bib17","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.brainres.2014.08.059","article-title":"Ebf3-miR218 regulation is involved in the development of dopaminergic neurons","volume":"1587","author":"Baek","year":"2014","journal-title":"Brain Res."},{"key":"10.1016\/j.heliyon.2024.e41591_bib18","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.mcn.2003.11.004","article-title":"Identification and developmental analysis of genes expressed by dopaminergic neurons of the substantia nigra pars compacta","volume":"25","author":"Thuret","year":"2004","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.heliyon.2024.e41591_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2021.12.012","article-title":"Duplication\/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype","volume":"37","author":"Ignatius","year":"2022","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.heliyon.2024.e41591_bib20","doi-asserted-by":"crossref","first-page":"2913","DOI":"10.1002\/ajmg.a.62369","article-title":"Clinical spectrum of individuals with de novo EBF3 variants or deletions","volume":"185","author":"Nishi","year":"2021","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.heliyon.2024.e41591_bib21","doi-asserted-by":"crossref","first-page":"751.e1","DOI":"10.1016\/j.jpurol.2023.08.023","article-title":"Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder","volume":"19","author":"Batie","year":"2023","journal-title":"J. Pediatr. Urol."},{"key":"10.1016\/j.heliyon.2024.e41591_bib22","doi-asserted-by":"crossref","first-page":"dev186239","DOI":"10.1242\/dev.186239","article-title":"Transient and lineage-restricted requirement of Ebf3 for sternum ossification","volume":"147","author":"Kuriki","year":"2020","journal-title":"Development (Cambridge, U. K.)"},{"key":"10.1016\/j.heliyon.2024.e41591_bib23","doi-asserted-by":"crossref","first-page":"3793","DOI":"10.1038\/ncomms4793","article-title":"Ebf factors and MyoD cooperate to regulate muscle relaxation via Atp2a1","volume":"5","author":"Jin","year":"2014","journal-title":"Nat. Commun."}],"container-title":["Heliyon"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405844024176220?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405844024176220?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T22:12:42Z","timestamp":1769033562000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2405844024176220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["S2405844024176220"],"URL":"https:\/\/doi.org\/10.1016\/j.heliyon.2024.e41591","relation":{},"ISSN":["2405-8440"],"issn-type":[{"value":"2405-8440","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unveiling the prenatal features of HADDS: A case report and literature review","name":"articletitle","label":"Article Title"},{"value":"Heliyon","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.heliyon.2024.e41591","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"e41591"}}