{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T01:07:43Z","timestamp":1780535263358,"version":"3.54.1"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T00:00:00Z","timestamp":1109289600000},"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":[[2005,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the <jats:italic>NOG<\/jats:italic> gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30645","type":"journal-article","created":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T18:54:52Z","timestamp":1109357692000},"page":"318-320","source":"Crossref","is-referenced-by-count":15,"title":["Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo <i>NOGGIN<\/i> mutation"],"prefix":"10.1002","volume":"134A","author":[{"given":"Philippe","family":"Debeer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Huysmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim J.M.","family":"Van de Ven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,2,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/342067"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5368.1455"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200109000-00004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/6821"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600607.x"}],"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.30645","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30645","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T18:29:49Z","timestamp":1693679389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,25]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,4,30]]}},"alternative-id":["10.1002\/ajmg.a.30645"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30645","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,25]]}}}