{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T01:23:09Z","timestamp":1768440189475,"version":"3.49.0"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,4,29]],"date-time":"2002-04-29T00:00:00Z","timestamp":1020038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1927, Oluf Thomsen, in a classic paper, described a seven\u2010generation family with autosomal dominant axial synpolydactyly (SPD)\u2014the <jats:italic>Vordingborgtyp<\/jats:italic> of axis duplication and dysostosis. Expansion of a polyalanine tract in the <jats:italic>HOXD13<\/jats:italic> gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within <jats:italic>HOXD13<\/jats:italic>segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10397","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:27:22Z","timestamp":1033907242000},"page":"116-121","source":"Crossref","is-referenced-by-count":26,"title":["<i>HOXD13<\/i> polyalanine tract expansion in classical synpolydactyly type Vordingborg"],"prefix":"10.1002","volume":"110","author":[{"given":"Klaus Wilbrandt","family":"Kjaer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jess","family":"Hedeboe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merete","family":"Bugge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Friis\u2010Henriksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Baeksted","family":"Vestergaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,5,22]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1","volume-title":"Congenital deformities of the upper extremities","author":"Birch\u2010Jensen A","year":"1949"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7458"},{"key":"e_1_2_5_4_1","first-page":"679","article-title":"Gel\u2010loading dyes compatible with PCR","volume":"12","author":"Hoppe BL","year":"1992","journal-title":"Biotechniques"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5261.548"},{"issue":"1","key":"e_1_2_5_7_1","first-page":"35","article-title":"Limb anomalies from evolutionary, developmental, and genetic perspectives","volume":"30","author":"Opitz JM","year":"1996","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1926.tb12297.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5298.408"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10397","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T06:49:30Z","timestamp":1697525370000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,22]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,6,15]]}},"alternative-id":["10.1002\/ajmg.10397"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10397","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,22]]}}}