{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:27:12Z","timestamp":1790771232311,"version":"4.1.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,5]],"date-time":"2024-05-05T00:00:00Z","timestamp":1714867200000},"content-version":"am","delay-in-days":309,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1016\/j.ejmg.2023.104769","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T03:51:02Z","timestamp":1682653862000},"page":"104769","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["NOTCH2 related disorders: Description and review of the fetal presentation"],"prefix":"10.1016","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5103-8573","authenticated-orcid":false,"given":"W.","family":"Deb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Joubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Cogn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Ghesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"B\u00e9zieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Le Vaillant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Beneteau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib1","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1186\/s13023-014-0200-y","article-title":"Hajdu-Cheney syndrome: a review","volume":"9","author":"Canalis","year":"2014","journal-title":"Orphanet J. Rare Dis. d\u00e9c."},{"issue":"17","key":"10.1016\/j.ejmg.2023.104769_bib2","doi-asserted-by":"crossref","first-page":"6174","DOI":"10.3390\/ijerph17176174","article-title":"Hajdu\u2013cheney syndrome: a systematic review of the literature","volume":"17","author":"Cort\u00e9s-Mart\u00edn","year":"2020","journal-title":"IJERPH. 25 ao\u00fbt"},{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ejhg.2011.125","article-title":"Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu\u2013Cheney syndrome","volume":"20","author":"Gray","year":"2012","journal-title":"Eur.J. Human Genetics. Janv"},{"issue":"3","key":"10.1016\/j.ejmg.2023.104769_bib4","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s11604-021-01206-5","article-title":"A primer on skeletal dysplasias","volume":"40","author":"Handa","year":"2022","journal-title":"Jpn. J. Radiol. mars"},{"issue":"4","key":"10.1016\/j.ejmg.2023.104769_bib5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng.778","article-title":"Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis","volume":"43","author":"Isidor","year":"2011","journal-title":"Nat.Genetics. Avr"},{"issue":"4","key":"10.1016\/j.ejmg.2023.104769_bib6","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/ng.778","article-title":"Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis","volume":"43","author":"Isidor","year":"2011","journal-title":"Nat Genet. avr"},{"issue":"2","key":"10.1016\/j.ejmg.2023.104769_bib7","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.clp.2015.03.003","article-title":"Skeletal dysplasias","volume":"42","author":"Krakow","year":"2015","journal-title":"Clin Perinatol. juin"},{"issue":"2","key":"10.1016\/j.ejmg.2023.104769_bib8","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1097\/GIM.0b013e3181971ccb","article-title":"Guidelines for the prenatal diagnosis of fetal skeletal dysplasias","volume":"11","author":"Krakow","year":"2009","journal-title":"Genet Med. f\u00e9vr"},{"issue":"10","key":"10.1016\/j.ejmg.2023.104769_bib9","doi-asserted-by":"crossref","first-page":"2490","DOI":"10.1002\/ajmg.a.36656","article-title":"Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders","volume":"164","author":"Martin","year":"2014","journal-title":"Am. J. Med. Genet. Part A. oct"},{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib10","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1086\/505332","article-title":"NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the Notch signaling pathway","volume":"79","author":"McDaniell","year":"2006","journal-title":"Am. J. Human Genetics. juill"},{"issue":"4","key":"10.1016\/j.ejmg.2023.104769_bib11","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1038\/s41436-019-0731-7","article-title":"The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Monaghan","year":"2020","journal-title":"Genet. Med. avr"},{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0972-6","article-title":"Achondroplasia: a comprehensive clinical review","volume":"14","author":"Pauli","year":"2019","journal-title":"Orphanet J. Rare Dis. d\u00e9c."},{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib13","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ejmg.2018.04.015","article-title":"Phenotype variability in Hajdu-Cheney syndrome","volume":"62","author":"Regev","year":"2019","journal-title":"Eur. J. Med. Genetics. janv"},{"issue":"1","key":"10.1016\/j.ejmg.2023.104769_bib14","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1196\/annals.1402.072","article-title":"The skeletal dysplasias","volume":"1117","author":"Rimoin","year":"2007","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"4","key":"10.1016\/j.ejmg.2023.104769_bib15","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.779","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson","year":"2011","journal-title":"Nat.Genetics. Avr"},{"issue":"6","key":"10.1016\/j.ejmg.2023.104769_bib16","doi-asserted-by":"crossref","first-page":"641","DOI":"10.17219\/acem\/134166","article-title":"Lethal and life-limiting skeletal dysplasias: selected prenatal issues","volume":"30","author":"Stembalska","year":"2021","journal-title":"Adv. Clin. Exp. Med. 21 mai"},{"issue":"4","key":"10.1016\/j.ejmg.2023.104769_bib17","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.10233","article-title":"Molecular-pathogenetic classification of genetic disorders of the skeleton","volume":"106","author":"Superti-Furga","year":"2001","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2023.104769_bib18","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.tjog.2015.10.027","article-title":"Skeletal dysplasia with bowing long bones: proposed flowchart for prenatal diagnosis with case demonstration","volume":"55","author":"Tonni","year":"2016","journal-title":"Taiwan. J.Obstetric.Gynecol. d\u00e9c"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000757?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000757?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:19Z","timestamp":1761710059000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223000757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["S1769721223000757"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104769","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"NOTCH2 related disorders: Description and review of the fetal presentation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104769","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104769"}}