{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T03:25:21Z","timestamp":1768447521690,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,3,26]],"date-time":"2003-03-26T00:00:00Z","timestamp":1048636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>HOXD13<\/jats:italic> is the most 5\u2032 of the HOXD cluster of homeobox genes in chromosome band 2q31.1. Heterozygous expansions of a polyalanine tract in <jats:italic>HOXD13<\/jats:italic> are typically associated with synpolydactyly characterized by insertional digit duplication associated with syndactyly. We screened for mutations of <jats:italic>HOXD13<\/jats:italic> in patients with a variety of limb malformations and identified a novel heterozygous mutation (758\u20102delA) in a three\u2010generation family without the typical synpolydactyly phenotype in the hands, but with bilateral partial duplication of the 2nd metatarsals within the first web space of the feet. This mutation locates in the acceptor splice site of exon 2 and is predicted to cause failure of normal splicing of <jats:italic>HOXD13<\/jats:italic>. The foot abnormality in this family is similar to that described in two families by Goodman et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib12\">1998<\/jats:ext-link>: Am. J. Hum. Genet. 63: 992\u20131000] in which different deletions of <jats:italic>HOXD13<\/jats:italic> were reported. These findings together lend support to a distinct phenotype resulting from haploinsufficiency of <jats:italic>HOXD13<\/jats:italic>. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20103","type":"journal-article","created":{"date-parts":[[2003,7,31]],"date-time":"2003-07-31T10:15:55Z","timestamp":1059646555000},"page":"69-74","source":"Crossref","is-referenced-by-count":25,"title":["An acceptor splice site mutation in <i>HOXD13<\/i> results in variable hand, but consistent foot malformations"],"prefix":"10.1002","volume":"121A","author":[{"given":"Shih\u2010hsin","family":"Kan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henk","family":"Giele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew O.M.","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00639-6"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.945"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0382"},{"issue":"1","key":"e_1_2_7_5_1","first-page":"140","article-title":"A new mutation in HOXD13 associated with foot pre\u2010postaxial polydactyly","volume":"8","author":"Calabrese O","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.4.1175"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.852"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90378-4"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10776"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590101.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7458"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302070"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/338921"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01189"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.4.1681"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210743"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5261.548"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.137"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.421"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:58:07Z","timestamp":1700168287000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,26]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,8,15]]}},"alternative-id":["10.1002\/ajmg.a.20103"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20103","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,26]]}}}