{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T14:48:19Z","timestamp":1789915699227,"version":"4.0.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2018,10,29]],"date-time":"2018-10-29T00:00:00Z","timestamp":1540771200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1038\/s41431-018-0290-4","type":"journal-article","created":{"date-parts":[[2018,10,29]],"date-time":"2018-10-29T16:37:19Z","timestamp":1540831039000},"page":"384-388","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture"],"prefix":"10.1038","volume":"27","author":[{"given":"Aur\u00e9lien","family":"Trimouille","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e8le","family":"Tingaud-Sequeira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Pennamen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenaelle","family":"Andr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Bouron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Boucher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Fergelot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-2932","authenticated-orcid":false,"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,10,29]]},"reference":[{"key":"290_CR1","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1126\/science.1181369","volume":"326","author":"E Lieberman-Aiden","year":"2009","unstructured":"Lieberman-Aiden E, van Berkum NL, Williams L, et al. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science. 2009;326:289\u201393.","journal-title":"Science"},{"key":"290_CR2","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/nature11082","volume":"485","author":"JR Dixon","year":"2012","unstructured":"Dixon JR, Selvaraj S, Yue F, et al. Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature. 2012;485:376\u201380.","journal-title":"Nature"},{"key":"290_CR3","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1016\/j.molcel.2016.05.018","volume":"62","author":"JR Dixon","year":"2016","unstructured":"Dixon JR, Gorkin DU, Ren B. Chromatin domains: the unit of chromosome organization. Mol Cell. 2016;62:668\u201380.","journal-title":"Mol Cell"},{"key":"290_CR4","doi-asserted-by":"publisher","first-page":"e1005640","DOI":"10.1371\/journal.pgen.1005640","volume":"11","author":"N Matharu","year":"2015","unstructured":"Matharu N, Ahituv N. Minor loops in major folds: enhancer\u2013promoter looping, chromatin restructuring, and their association with transcriptional regulation and disease. PLoS Genet. 2015;11:e1005640.","journal-title":"PLoS Genet"},{"key":"290_CR5","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1038\/nrm.2016.138","volume":"17","author":"PHL Krijger","year":"2016","unstructured":"Krijger PHL, de Laat W. Regulation of disease-associated gene expression in the 3D genome. Nat Rev Mol Cell Biol. 2016;17:771\u201382.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"290_CR6","doi-asserted-by":"publisher","first-page":"e265","DOI":"10.1002\/wdev.265","volume":"6","author":"RD Acemel","year":"2017","unstructured":"Acemel RD, Maeso I, G\u00f3mez-Skarmeta JL. Topologically associated domains: a successful scaffold for the evolution of gene regulation in animals: topologically associated domains. Wiley Interdiscip Rev: Dev Biol. 2017;6:e265.","journal-title":"Wiley Interdiscip Rev: Dev Biol"},{"key":"290_CR7","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/j.cell.2015.04.004","volume":"161","author":"DG Lupi\u00e1\u00f1ez","year":"2015","unstructured":"Lupi\u00e1\u00f1ez DG, Kraft K, Heinrich V, et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015;161:1012\u201325.","journal-title":"Cell"},{"key":"290_CR8","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S0925-4773(02)00417-3","volume":"2","author":"U Greferath","year":"2002","unstructured":"Greferath U, Canty AJ, Messenger J, Murphy M. Developmental expression of EphA4-tyrosine kinase receptor in the mouse brain and spinal cord. Gene Expr Patterns. 2002;2:267\u201374.","journal-title":"Gene Expr Patterns"},{"key":"290_CR9","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1242\/dev.127.15.3313","volume":"127","author":"F Helmbacher","year":"2000","unstructured":"Helmbacher F, Schneider-Maunoury S, Topilko P, Tiret L, Charnay P. Targeting of the EphA4 tyrosine kinase receptor affects dorsal\/ventral pathfinding of limb motor axons. Development. 2000;127:3313\u201324.","journal-title":"Development"},{"key":"290_CR10","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1126\/science.273.5275.613","volume":"273","author":"A Vortkamp","year":"1996","unstructured":"Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science. 1996;273:613\u201322.","journal-title":"Science"},{"key":"290_CR11","doi-asserted-by":"publisher","unstructured":"Labsquare Team, Schutz S, Gueudelot O. Cutepeaks 0.1.0: A simple Sanger trace file. 2017. https:\/\/doi.org\/10.5281\/zenodo.824555 .","DOI":"10.5281\/zenodo.824555"},{"key":"290_CR12","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","volume":"84","author":"HV Firth","year":"2009","unstructured":"Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am J Human Genet. 2009;84:524\u201333.","journal-title":"Am J Human Genet"},{"key":"290_CR13","doi-asserted-by":"crossref","unstructured":"Kaminsky EB, Kaul V, Paschall J et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities: Genet Med. 2011; 13: 777\u201384.","DOI":"10.1097\/GIM.0b013e31822c79f9"},{"key":"290_CR14","doi-asserted-by":"publisher","first-page":"D986","DOI":"10.1093\/nar\/gkt958","volume":"42","author":"JR MacDonald","year":"2014","unstructured":"MacDonald JR, Ziman R, Yuen RKC, Feuk L, Scherer SW. The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2014;42:D986\u2013992.","journal-title":"Nucleic Acids Res"},{"key":"290_CR15","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1016\/j.cell.2014.11.021","volume":"159","author":"SSP Rao","year":"2014","unstructured":"Rao SSP, Huntley MH, Durand NC, et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell. 2014;159:1665\u201380.","journal-title":"Cell"},{"key":"290_CR16","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/ejhg.2011.250","volume":"20","author":"M Yuksel-Apak","year":"2012","unstructured":"Yuksel-Apak M, B\u00f6gershausen N, Pawlik B, et al. A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet. 2012;20:639\u201344.","journal-title":"Eur J Hum Genet"},{"key":"290_CR17","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1017\/S0016672300034194","volume":"68","author":"MF Lyon","year":"1996","unstructured":"Lyon MF, Quinney R, Glenister PH, Kerscher S, Guillot P, Boyd Y. Doublefoot: a new mouse mutant affecting development of limbs and head. Genet Res. 1996;68:221\u201331.","journal-title":"Genet Res"},{"key":"290_CR18","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.mod.2008.01.001","volume":"125","author":"C Babbs","year":"2008","unstructured":"Babbs C, Furniss D, Morriss-Kay GM, Wilkie AOM. Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. Mech Dev. 2008;125:517\u201326.","journal-title":"Mech Dev"},{"key":"290_CR19","doi-asserted-by":"publisher","first-page":"e1007363","DOI":"10.1371\/journal.pgen.1007363","volume":"14","author":"R Pace De","year":"2018","unstructured":"De Pace R, Skirzewski M, Damme M, et al. Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. PLoS Genet. 2018;14:e1007363.","journal-title":"PLoS Genet"},{"issue":"Suppl 1","key":"290_CR20","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-13-S1-S3","volume":"13","author":"TY Lee","year":"2012","unstructured":"Lee T-Y, Chang W-C, Hsu JB-K, Chang T-H, Shien D-M. GPMiner: an integrated system for mining combinatorial cis-regulatory elements in mammalian gene group. BMC Genom. 2012;13(Suppl 1):S3.","journal-title":"BMC Genom"},{"key":"290_CR21","doi-asserted-by":"crossref","unstructured":"Ushijima T, Okazaki K, Tsushima H, Ishihara K, Doi T, Iwamoto Y. CCAAT\/enhancer binding protein \u03b2 regulates expression of indian Hedgehog during chondrocytes differentiation. PLoS ONE. 2014; 9: e104547.","DOI":"10.1371\/journal.pone.0104547"},{"key":"290_CR22","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1038\/nature12787","volume":"507","author":"R Andersson","year":"2014","unstructured":"Andersson R, Gebhard C, Miguel-Escalada I, et al. An atlas of active enhancers across human cell types and tissues. Nature. 2014;507:455\u201361.","journal-title":"Nature"},{"key":"290_CR23","doi-asserted-by":"publisher","unstructured":"Wang Y, Zhang B, Zhang L et al. The 3D genome browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions. 2017. https:\/\/doi.org\/10.1101\/112268 .","DOI":"10.1101\/112268"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0290-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0290-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0290-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T20:58:43Z","timestamp":1684616323000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-018-0290-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,29]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["290"],"URL":"https:\/\/doi.org\/10.1038\/s41431-018-0290-4","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,29]]},"assertion":[{"value":"17 January 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Written informed consent was received for a pathological examination of fetal and placental tissues. The authors adhere to the Declaration of Helsinki Principles.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statement"}},{"value":"The authors declare that they have no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}