{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:21:43Z","timestamp":1790767303146,"version":"4.1.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T00:00:00Z","timestamp":1579564800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T00:00:00Z","timestamp":1579564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001843","name":"DST | Science and Engineering Research Board","doi-asserted-by":"publisher","award":["EMR\/2016\/003887"],"award-info":[{"award-number":["EMR\/2016\/003887"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001843","name":"DST | Science and Engineering Research Board","doi-asserted-by":"publisher","award":["EMR\/2016\/003887"],"award-info":[{"award-number":["EMR\/2016\/003887"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1038\/s41431-020-0572-5","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T15:03:42Z","timestamp":1579619022000},"page":"669-673","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G&gt;A variant in TBX4"],"prefix":"10.1038","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7122-3197","authenticated-orcid":false,"given":"Prajnya","family":"Ranganath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sreeja","family":"Perala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lekshmi","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod Kumar","family":"Pamu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aparna","family":"Shankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakthivel","family":"Murugan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,1,21]]},"reference":[{"key":"572_CR1","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1146\/annurev.genet.39.073003.105925","volume":"39","author":"LA Naiche","year":"2005","unstructured":"Naiche LA, Harrelson Z, Kelly RG, et al. T-box genes in vertebrate development. Annu Rev Genet. 2005;39:219\u201339.","journal-title":"Annu Rev Genet"},{"key":"572_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/0925-4773(96)00514-X","volume":"56","author":"JJ Gibson-Brown","year":"1996","unstructured":"Gibson-Brown JJ, Agulnik SI, Chapman DL, Alexiou M, Garvey N, Silver LM, et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb\/hindlimb identity. Mech Dev. 1996;56:93\u2013101.","journal-title":"Mech Dev"},{"key":"572_CR3","doi-asserted-by":"publisher","first-page":"2681","DOI":"10.1242\/dev.00504","volume":"130","author":"LA Naiche","year":"2003","unstructured":"Naiche LA, Papaioannou VE. Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois. Development. 2003;130:2681\u201393.","journal-title":"Development"},{"key":"572_CR4","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/S0925-4773(99)00126-4","volume":"87","author":"K Tamura","year":"1999","unstructured":"Tamura K, Yonei-Tamura S, Izpis\u00faa Belmonte JC. Differential expression of Tbx4 and Tbx5 in Zebrafish fin buds. Mech Dev. 1999;87:181\u20134.","journal-title":"Mech Dev"},{"key":"572_CR5","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1007\/s00427-008-0249-5","volume":"218","author":"AC Horton","year":"2008","unstructured":"Horton AC, Mahadevan NR, Minguillon C, Osoegawa K, Rokhsar DS, Ruvinsky I, et al. Conservation of linkage and evolution of developmental function within the Tbx2\/3\/4\/5 subfamily of T-box genes: implications for the origin of vertebrate limbs. Dev Genes Evol. 2008;218:613\u201328.","journal-title":"Dev Genes Evol"},{"key":"572_CR6","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1086\/421331","volume":"74","author":"EM Bongers","year":"2004","unstructured":"Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, et al. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74:1239\u201348.","journal-title":"Am J Hum Genet"},{"key":"572_CR7","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/bs.ctdb.2016.08.009","volume":"122","author":"CJ Sheeba","year":"2017","unstructured":"Sheeba CJ, Logan MP. The roles of T-Box genes in vertebrate limb development. Curr Top Dev Biol. 2017;122:355\u201381.","journal-title":"Curr Top Dev Biol"},{"key":"572_CR8","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.devcel.2004.11.013","volume":"8","author":"C Minguillon","year":"2005","unstructured":"Minguillon C, Del Buono J, Logan MP. Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev Cell. 2005;8:75\u201384.","journal-title":"Dev Cell"},{"key":"572_CR9","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1111\/cge.13103","volume":"92","author":"C Vanlerberghe","year":"2017","unstructured":"Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, et al. Small patella syndrome: New clinical and molecular insights into a consistent phenotype. Clin Genet. 2017;92:676\u20138.","journal-title":"Clin Genet"},{"key":"572_CR10","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.ajhg.2010.06.010","volume":"87","author":"DM Alvarado","year":"2010","unstructured":"Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, et al. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. Am J Hum Genet. 2010;87:154\u201360.","journal-title":"Am J Hum Genet"},{"key":"572_CR11","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1242\/bio.016295","volume":"5","author":"EK Don","year":"2016","unstructured":"Don EK, de Jong-Curtain TA, Doggett K, Hall TE, Heng B, Badrock AP, et al. Genetic basis of hindlimb loss in a naturally occurring vertebrate model. Biol Open. 2016;5:359\u201366.","journal-title":"Biol Open"},{"key":"572_CR12","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.ajhg.2018.12.010","volume":"104","author":"JA Karolak","year":"2019","unstructured":"Karolak JA, Vincent M, Deutsch G, Gambin T, Cogn\u00e9 B, Pichon O, et al. Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway. Am J Hum Genet. 2019;104:213\u201328.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41431-020-0572-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-020-0572-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-020-0572-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:01:24Z","timestamp":1684616484000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-020-0572-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,21]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["572"],"URL":"https:\/\/doi.org\/10.1038\/s41431-020-0572-5","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,21]]},"assertion":[{"value":"3 May 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 November 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 December 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2020","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":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}