{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:12Z","timestamp":1791121452240,"version":"4.1.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2002,2,1]],"date-time":"2002-02-01T00:00:00Z","timestamp":1012521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4186,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,2]]},"DOI":"10.1086\/338921","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T16:51:06Z","timestamp":1027702266000},"page":"547-555","source":"Crossref","is-referenced-by-count":91,"title":["A 117-kb Microdeletion Removing HOXD9\u2013HOXD13 and EVX2 Causes Synpolydactyly"],"prefix":"10.1016","volume":"70","author":[{"given":"Frances R.","family":"Goodman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Scambler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/338921_bib6","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":"10.1086\/338921_bib7","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.1320250302","article-title":"Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33)","volume":"25","author":"Benson","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1086\/338921_bib8","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.1320550204","article-title":"Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review","volume":"55","author":"Boles","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/338921_bib9","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1006\/dbio.2001.0382","article-title":"The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes","volume":"237","author":"Bruneau","year":"2001","journal-title":"Dev Biol"},{"key":"10.1086\/338921_bib10","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1006\/jmbi.1998.1641","article-title":"Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease","volume":"277","author":"Burwinkel","year":"1998","journal-title":"J Mol Biol"},{"issue":"Suppl 1","key":"10.1086\/338921_bib11","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":"10.1086\/338921_bib12","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1093\/hmg\/5.5.571","article-title":"Characterization of the split hand\/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development","volume":"5","author":"Crackower","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/338921_bib13","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1086\/302467","article-title":"Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster","volume":"65","author":"Del Campo","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/338921_bib14","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1086\/302452","article-title":"Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency and persistent patent ductus Botalli","volume":"65","author":"Devriendt","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/338921_bib15","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/338921_bib16","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s004390050210","article-title":"A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia","volume":"98","author":"Drechsler","year":"1996","journal-title":"Hum Genet"},{"issue":"Suppl 1","key":"10.1086\/338921_bib17","first-page":"179","article-title":"An amino acid substitution in the HOXD13 homeodomain causes a novel brachydactyly-polydactyly syndrome","volume":"9","author":"Goodman","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/338921_bib18","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":"10.1086\/338921_bib19","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 USA"},{"key":"10.1086\/338921_bib20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1399-0004.2001.590101.x","article-title":"Human HOX gene mutations","volume":"59","author":"Goodman","year":"2001","journal-title":"Clin Genet"},{"key":"10.1086\/338921_bib21","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1006\/dbio.1998.9179","article-title":"Hox gene expression in limbs: colinearity by opposite regulatory controls","volume":"208","author":"H\u00e9rault","year":"1999","journal-title":"Dev Biol"},{"key":"10.1086\/338921_bib22","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"International Human Genome Sequencing Consortium","year":"2001","journal-title":"Nature"},{"key":"10.1086\/338921_bib23","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/S0092-8674(00)80749-7","article-title":"Breaking colinearity in the mouse HoxD complex","volume":"97","author":"Kondo","year":"1999","journal-title":"Cell"},{"key":"10.1086\/338921_bib24","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0092-8674(94)90290-9","article-title":"Hox genes in vertebrate development","volume":"78","author":"Krumlauf","year":"1994","journal-title":"Cell"},{"key":"10.1086\/338921_bib25","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1159\/000015651","article-title":"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-q32.1","volume":"90","author":"Limongi","year":"2000","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/338921_bib26","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1097\/00019605-200009010-00010","article-title":"Interstitial deletion of the long arm of chromosome 2: a clinically recognisable microdeletion syndrome?","volume":"9","author":"Maas","year":"2000","journal-title":"Clin Dysmorphol"},{"key":"10.1086\/338921_bib27","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":"10.1086\/338921_bib28","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/dnares\/7.6.347","article-title":"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro","volume":"7","author":"Nagase","year":"2000","journal-title":"DNA Res"},{"key":"10.1086\/338921_bib29","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<324::AID-AJMG20>3.0.CO;2-M","article-title":"Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation","volume":"70","author":"Nixon","year":"1997","journal-title":"Am J Med Genet"},{"issue":"Suppl 1","key":"10.1086\/338921_bib30","first-page":"74","article-title":"HOXD gene cluster haploinsufficiency does not generate gross limb abnormalities","volume":"8","author":"Prieur","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/338921_bib31","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1006\/dbio.1997.8556","article-title":"Role of the Dlx homeobox genes in proximo-distal patterning of the branchial arches: mutations of Dlx1, Dlx2, and Dlx1 and 2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches","volume":"185","author":"Qiu","year":"1997","journal-title":"Dev Biol"},{"key":"10.1086\/338921_bib32","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/ajmg.1320370320","article-title":"Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations","volume":"37","author":"Ramer","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1086\/338921_bib33","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0959-437X(97)80074-3","article-title":"Genetic interactions of Hox genes in limb development: learning from compound mutants","volume":"7","author":"Rijli","year":"1997","journal-title":"Curr Op Genet Devel"},{"key":"10.1086\/338921_bib34","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1093\/hmg\/2.5.617","article-title":"Dinucleotide repeat polymorphism in the HOX4E locus","volume":"2","author":"Rosen","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/338921_bib35","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1006\/geno.1994.1579","article-title":"Order of six loci at 2q24-q31 and orientation of the HOXD locus","volume":"24","author":"Rossi","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/338921_bib36","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1093\/hmg\/4.10.1837","article-title":"A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps","volume":"4","author":"Sheffield","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/338921_bib37","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1073\/pnas.91.6.2250","article-title":"Cloning and characterization of two members of the vertebrate Dlx gene family","volume":"91","author":"Simeone","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/338921_bib38","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<75::AID-AJMG15>3.0.CO;2-J","article-title":"Two cases with interstitial deletions of chromosome 2 and sex reversal in one","volume":"86","author":"Slavotinek","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/338921_bib39","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1016\/S0092-8674(00)81303-3","article-title":"Gene transpositions in the HoxD complex reveal a hierarchy of regulatory controls","volume":"85","author":"van der Hoeven","year":"1996","journal-title":"Cell"},{"key":"10.1086\/338921_bib40","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1126\/science.1058040","article-title":"The sequence of the human genome","volume":"291","author":"Venter","year":"2001","journal-title":"Science"},{"key":"10.1086\/338921_bib41","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/384069a0","article-title":"Synpolydactyly in mice with a targeted deficiency in the HoxD complex","volume":"384","author":"Z\u00e1k\u00e1ny","year":"1996","journal-title":"Nature"},{"key":"10.1086\/338921_bib42","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s004410051262","article-title":"Hox genes in digit development and evolution","volume":"296","author":"Z\u00e1k\u00e1ny","year":"1999","journal-title":"Cell Tissue Res"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763969X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970763969X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:53:22Z","timestamp":1555005202000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970763969X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["S000292970763969X"],"URL":"https:\/\/doi.org\/10.1086\/338921","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,2]]}}}