{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T07:03:46Z","timestamp":1761807826763},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81170543","81000253"],"award-info":[{"award-number":["81170543","81000253"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Doctoral Program of Higher Education of China","award":["#20102104120024"],"award-info":[{"award-number":["#20102104120024"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.gene.2013.09.040","type":"journal-article","created":{"date-parts":[[2013,9,18]],"date-time":"2013-09-18T07:48:03Z","timestamp":1379490483000},"page":"297-301","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning"],"prefix":"10.1016","volume":"532","author":[{"given":"Xiuyan","family":"Shi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihua","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuyang","family":"Shang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.09.040_bb0005","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1093\/hmg\/5.7.945","article-title":"Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families","volume":"5","author":"Akarsu","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0010","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.1093\/hmg\/ddh277","article-title":"A molecular pathogenesis for transcription factor associated poly-alanine tract expansions","volume":"13","author":"Albrecht","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0015","first-page":"140","article-title":"A new mutation in HOXD13 associated with foot pre-postaxial polydactyly","volume":"8","author":"Calabrese","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0020","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.39.11.852","article-title":"Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13","volume":"39","author":"Debeer","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0025","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1136\/jmg.39.2.98","article-title":"The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly","volume":"39","author":"Debeer","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0030","doi-asserted-by":"crossref","first-page":"2931","DOI":"10.1242\/dev.01897","article-title":"Developmental regulation of the Hox genes during axial morphogenesis in the mouse","volume":"132","author":"Deschamps","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.gene.2013.09.040_bb0045","doi-asserted-by":"crossref","first-page":"7458","DOI":"10.1073\/pnas.94.14.7458","article-title":"Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract","volume":"94","author":"Goodman","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2013.09.040_bb0035","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1086\/302070","article-title":"Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families","volume":"63","author":"Goodman","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0040","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1086\/338921","article-title":"A 117-kb microdeletion removing HOXD9\u2013HOXD13 and EVX2 causes synpolydactyly","volume":"70","author":"Goodman","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0050","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1086\/374721","article-title":"Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E","volume":"72","author":"Johnson","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0055","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.a.20103","article-title":"An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations","volume":"121A","author":"Kan","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.09.040_bb0060","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/jhg.2011.84","article-title":"A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance","volume":"56","author":"Kurban","year":"2011","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0065","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1111\/j.1399-0004.2006.00620.x","article-title":"Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2\u2013q12","volume":"69","author":"Malik","year":"2006","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2013.09.040_bb0070","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1126\/science.272.5261.548","article-title":"Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13","volume":"272","author":"Muragaki","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.gene.2013.09.040_bb0075","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1074\/jbc.M510900200","article-title":"Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs","volume":"281","author":"Salsi","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.09.040_bb0080","doi-asserted-by":"crossref","first-page":"1994","DOI":"10.1172\/JCI41554","article-title":"Homeobox genes d11\u2013d13 and a13 control mouse autopod cortical bone and joint formation","volume":"120","author":"Villavicencio-Lorini","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.gene.2013.09.040_bb0085","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1126\/science.275.5298.408","article-title":"Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13","volume":"275","author":"Warren","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.gene.2013.09.040_bb0090","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.gene.2012.02.046","article-title":"Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly","volume":"499","author":"Xin","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.gene.2013.09.040_bb0100","first-page":"5","article-title":"HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family","volume":"22","author":"Zhao","year":"2005","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.gene.2013.09.040_bb0095","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1086\/511387","article-title":"Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly\u2013syndactyly syndrome","volume":"80","author":"Zhao","year":"2007","journal-title":"Am. J. Hum. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913012304?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913012304?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T00:52:18Z","timestamp":1539391938000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913012304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0378111913012304"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.09.040","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.09.040","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}