{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:12:11Z","timestamp":1787771531795,"version":"build-2784847793"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2012,1,18]],"date-time":"2012-01-18T00:00:00Z","timestamp":1326844800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1038\/ejhg.2011.264","type":"journal-article","created":{"date-parts":[[2012,1,18]],"date-time":"2012-01-18T15:20:02Z","timestamp":1326900002000},"page":"705-708","source":"Crossref","is-referenced-by-count":50,"title":["Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly"],"prefix":"10.1038","volume":"20","author":[{"given":"Eva","family":"Klopocki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"K\u00e4hler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Foulds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Joseph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"L\u00fcttgen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Bald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Besoke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Held","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,1,18]]},"reference":[{"key":"BFejhg2011264_CR1","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1086\/377110","volume":"73","author":"U Kornak","year":"2003","unstructured":"Kornak U, Mundlos S : Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet 2003; 73: 447\u2013474.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011264_CR2","doi-asserted-by":"publisher","first-page":"990","DOI":"10.1002\/dvdy.22565","volume":"240","author":"S Stricker","year":"2011","unstructured":"Stricker S, Mundlos S : Mechanisms of digit formation: human malformation syndromes tell the story. Dev Dyn 2011; 240: 990\u20131004.","journal-title":"Dev Dyn"},{"key":"BFejhg2011264_CR3","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195165685.001.0001","volume-title":"Human Malformations and Related Anomalies","author":"RE Stevenson","year":"2005","unstructured":"Stevenson RE, Judith G H : Human Malformations and Related Anomalies. New York: Oxford University Press, 2005."},{"key":"BFejhg2011264_CR4","doi-asserted-by":"publisher","first-page":"2557","DOI":"10.1002\/ajmg.a.32393","volume":"146A","author":"A Marino-Enriquez","year":"2008","unstructured":"Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI : Laurin-Sandrow syndrome: review and redefinition. Am J Med Genet A 2008; 146A: 2557\u20132565.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2011264_CR5","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/s11832-006-0001-5","volume":"1","author":"R Verghese","year":"2007","unstructured":"Verghese R, Shah H, Rebello G, Joseph B : Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg. J Child Orthop 2007; 1: 49\u201354.","journal-title":"J Child Orthop"},{"key":"BFejhg2011264_CR6","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1007\/s100380200015","volume":"47","author":"S Kondoh","year":"2002","unstructured":"Kondoh S, Sugawara H, Harada N et al: A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 2002; 47: 136\u2013139.","journal-title":"J Hum Genet"},{"key":"BFejhg2011264_CR7","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.ajhg.2008.10.004","volume":"83","author":"CA Gurnett","year":"2008","unstructured":"Gurnett CA, Alaee F, Kruse LM et al: Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet 2008; 83: 616\u2013622.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011264_CR8","doi-asserted-by":"publisher","first-page":"3943","DOI":"10.1093\/hmg\/ddr313","volume":"20","author":"DM Alvarado","year":"2011","unstructured":"Alvarado DM, McCall K, Aferol H et al: Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Hum Mol Genet 2011; 20: 3943\u20133952.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011264_CR9","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1136\/jmg.2007.055699","volume":"45","author":"E Klopocki","year":"2008","unstructured":"Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K : A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 2008; 45: 370\u2013375.","journal-title":"J Med Genet"},{"key":"BFejhg2011264_CR10","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/ng1296-392","volume":"14","author":"EV Semina","year":"1996","unstructured":"Semina EV, Reiter R, Leysens NJ et al: Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392\u2013399.","journal-title":"Nat Genet"},{"key":"BFejhg2011264_CR11","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1101\/gad.13.4.484","volume":"13","author":"DP Szeto","year":"1999","unstructured":"Szeto DP, Rodriguez-Esteban C, Ryan AK et al: Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev 1999; 13: 484\u2013494.","journal-title":"Genes Dev"},{"key":"BFejhg2011264_CR12","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1242\/dev.00192","volume":"130","author":"A Marcil","year":"2003","unstructured":"Marcil A, Dumontier E, Chamberland M, Camper SA, Drouin J : Pitx1 and Pitx2 are required for development of hindlimb buds. Development 2003; 130: 45\u201355.","journal-title":"Development"},{"key":"BFejhg2011264_CR13","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":"BFejhg2011264_CR14","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.ydbio.2006.06.055","volume":"299","author":"A DeLaurier","year":"2006","unstructured":"DeLaurier A, Schweitzer R, Logan M : Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb. Dev Biol 2006; 299: 22\u201334.","journal-title":"Dev Biol"},{"key":"BFejhg2011264_CR15","doi-asserted-by":"publisher","first-page":"1736","DOI":"10.1126\/science.283.5408.1736","volume":"283","author":"M Logan","year":"1999","unstructured":"Logan M, Tabin CJ : Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity. Science 1999; 283: 1736\u20131739.","journal-title":"Science"},{"key":"BFejhg2011264_CR16","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1126\/science.1182213","volume":"327","author":"YF Chan","year":"2010","unstructured":"Chan YF, Marks ME, Jones FC et al: Adaptive evolution of pelvic reduction in sticklebacks by recurrent deletion of a Pitx1 enhancer. Science 2010; 327: 302\u2013305.","journal-title":"Science"},{"key":"BFejhg2011264_CR17","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1242\/dev.126.9.1805","volume":"126","author":"C Lanctot","year":"1999","unstructured":"Lanctot C, Moreau A, Chamberland M, Tremblay ML, Drouin J : Hindlimb patterning and mandible development require the Ptx1 gene. Development 1999; 126: 1805\u20131810.","journal-title":"Development"},{"key":"BFejhg2011264_CR18","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1038\/ng0809-862","volume":"41","author":"I Kurth","year":"2009","unstructured":"Kurth I, Klopocki E, Stricker S et al: Duplications of noncoding elements 5\u2032 of SOX9 are associated with brachydactyly-anonychia. Nat Genet 2009; 41: 862\u2013863.","journal-title":"Nat Genet"},{"key":"BFejhg2011264_CR19","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1146\/annurev-genom-082410-101404","volume":"12","author":"E Klopocki","year":"2011","unstructured":"Klopocki E, Mundlos S : Copy-number variations, noncoding sequences, and human phenotypes. Annu Rev Genomics Hum Genet 2011; 12: 53\u201372.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"BFejhg2011264_CR20","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1111\/j.1440-169X.2007.00943.x","volume":"49","author":"RE Hill","year":"2007","unstructured":"Hill RE : How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly. Dev Growth Differ 2007; 49: 439\u2013448.","journal-title":"Dev Growth Differ"},{"key":"BFejhg2011264_CR21","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1086\/506332","volume":"79","author":"CG Woods","year":"2006","unstructured":"Woods CG, Stricker S, Seemann P et al: Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi\/Raas-Rothschild\/Schinzel phocomelia syndrome. Am J Hum Genet 2006; 79: 402\u2013408.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011264.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011264","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011264.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T23:42:57Z","timestamp":1713397377000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2011264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,18]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["BFejhg2011264"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2011.264","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,18]]}}}